☆ 4.7 Review

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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Article Cardiac & Cardiovascular Systems

Potential Interactions When Prescribing SGLT2 Inhibitors and Intravenous Iron in Combination in Heart Failure

Milton Packer

Summary: In patients with heart failure, the use of SGLT2 inhibitors can lead to worsening absolute iron deficiency, but it is not caused by poor dietary intake or gastrointestinal bleeding. There are two possible explanations for the observed changes in iron homeostasis proteins. According to the cytosolic iron depletion hypothesis, SGLT2 inhibitors decrease hepcidin and ferritin and increase transferrin receptor due to drug-induced erythropoietin-related increase in iron use. According to the cytosolic iron repletion hypothesis, SGLT2 inhibitors decrease hepcidin and ferritin and increase transferrin receptor by reversing inflammation-related increases in hepcidin and ferritin and increasing sirtuin-1 signaling.

JACC-HEART FAILURE (2023)

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Article Genetics & Heredity

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China

Zhenjie Zhang et al.

Summary: This study conducted a retrospective analysis on Chinese patients with MPS II and found common symptoms such as claw-like hands and coarse facial features. Cardiac manifestations included valve abnormalities. Multiple IDS gene variants were discovered and these findings could contribute to early diagnosis and treatment.

FRONTIERS IN GENETICS (2023)

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Article Immunology

Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report

Sepideh Ebrahimi Meimand et al.

Summary: Glycogen storage disease type Ib (GSDIb) is an autosomal recessive disorder caused by mutations of the SLC37A4 gene, leading to various clinical manifestations such as hepatomegaly, renomegaly, neutropenia, hypoglycemia, and lactic acidosis. It may also result in severe long-term complications.

IMMUNOLOGIC RESEARCH (2023)

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Review Genetics & Heredity

Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review

Ying Li et al.

Summary: This study reported two heterozygous variants of B3GAT3 in a Chinese infant, providing new insights into the genotype-phenotype correlations in individuals with cardiovascular defects.

BMC MEDICAL GENOMICS (2022)

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Article Medicine, General & Internal

No association of Gaucher disease with COVID-19-related outcomes: a nationwide cohort study

Ibrahim Demirci et al.

Summary: According to national data, patients with Gaucher disease do not have a more severe course of SARS-CoV-2 infection compared to the general population.

INTERNAL MEDICINE JOURNAL (2022)

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Article Endocrinology & Metabolism

Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil

Nathalie Guffon et al.

Summary: Odiparcil, an orally available small molecule, has shown promising safety and tolerability in MPS VI patients, with improvements in pain, corneal clouding, cardiac, vascular, and respiratory functions. Further evaluation of odiparcil in younger patients is warranted.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

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Article Genetics & Heredity

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Sarah Verheyen et al.

Summary: This study reports four affected individuals from two unrelated consanguineous families with MPS-related features, showing additional cardiac and ophthalmological abnormalities in some cases. The detection of mild elevation of a specific GAG in some subjects suggests a novel subtype of mucopolysaccharidosis, which is proposed to be named subtype X.

JOURNAL OF MEDICAL GENETICS (2022)

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Article Medicine, General & Internal

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report

Isadora Andrade et al.

Summary: Mucopolysaccharidosis VI, or Maroteaux-Lamy disease, is a genetic disease that can be treated with enzyme replacement therapy to slow down disease progression. However, it cannot prevent the occurrence of major symptoms. Enzyme replacement therapy has a positive impact on the patient's survival.

JOURNAL OF MEDICAL CASE REPORTS (2022)

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Article Cardiac & Cardiovascular Systems

Sanfilippo syndrome type A: early cardiac involvement of two patients with cardiac manifestations

Marcia Cirino Ballantyne et al.

Summary: This article reports two atypical presentations of mucopolysaccharidosis type III and provides evidence of cardiac involvement. Two siblings with Sanfilippo A syndrome were diagnosed in childhood, and one of them underwent a heart transplant at the age of 45 due to end-stage heart failure. The study of heart specimens revealed a thin right ventricular free wall, leading to a differential diagnosis with other cardiac diseases.

CARDIOVASCULAR PATHOLOGY (2022)

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Article Medical Laboratory Technology

SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population

Lijing Ma et al.

Summary: This study found that single nucleotide variations of the SLC2A3 gene significantly increased the risk of congenital heart disease.

JOURNAL OF CLINICAL LABORATORY ANALYSIS (2022)

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Article Genetics & Heredity

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

Robert Lesurf et al.

Summary: This study analyzed WGS data of 209 pediatric CMP patients and 1953 replication genomes and exomes, and found that variants in new genes and regulatory elements of known CMP genes contribute significantly to early onset CMP.

NPJ GENOMIC MEDICINE (2022)

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Article Genetics & Heredity

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

Sara Nagy et al.

Summary: Pathogenic variants in DPM genes cause congenital disorders of glycosylation, with DPM1 and DPM2 associated with muscle-eye-brain disease and DPM3 with isolated muscle disease-dystroglycanopathy. This study identified a rare homozygous DPM3 variant in five affected individuals, linking it to global developmental delay, intellectual disability, microcephaly, seizures, muscle weakness, and cardiomyopathy.

CLINICAL GENETICS (2022)

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Article Biochemistry & Molecular Biology

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

Anna Gaertner et al.

Summary: This study reported a patient with muscular dystrophy and early onset dilated cardiomyopathy who carried compound heterozygous variants in FKTN. The research demonstrated that compound heterozygous mutations in FKTN result in loss of fully glycosylated alpha-dystroglycan, leading to cardiomyopathy and end-stage heart failure at a young age.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Review Polymer Science

The Alterations and Roles of Glycosaminoglycans in Human Diseases

Qingchi Wang et al.

Summary: This review investigates the structural alterations and roles of GAGs/PGs in various diseases, and discusses their potential in disease diagnosis, monitoring, prognosis, and drug development.

POLYMERS (2022)

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Review Health Care Sciences & Services

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)

Fabiano de Oliveira Poswar et al.

Summary: This review summarizes the clinical manifestations, diagnosis, and emerging treatments for Mucopolysaccharidosis VII (MPS VII), a rare lysosomal disease caused by a deficiency of the enzyme beta-glucuronidase (GUS).

THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2022)

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Review Endocrinology & Metabolism

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature

Nastassja Himmelreich et al.

Summary: This article describes the clinical symptoms of two new ALG9-CDG patients and identifies a novel homozygous mis-sense variant in the ALG9 gene that leads to protein degradation. The patients exhibited global developmental delay, psychomotor disability, facial dysmorphisms, brain and heart defects, hearing loss, hypotonia, and feeding problems. Analysis of lipid-linked oligosaccharides showed abnormal accumulation in patient cells. These findings contribute to the understanding of this rare N-glycosylation disorder.

MOLECULAR GENETICS AND METABOLISM (2022)

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Article Genetics & Heredity

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study

Simona Sestito et al.

Summary: This study found that cardiac damage is common in MPS patients in Italy, particularly in MPS VI and MPS II patients. Some cases showed complete regression or improvement of cardiac pathology after enzyme replacement therapy (ERT), but aortic insufficiency did not show any regression. The study also found no strict correlation between clinical phenotype and cardiac phenotype.

ORPHANET JOURNAL OF RARE DISEASES (2022)

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Article Genetics & Heredity

MPS VII-Extending the classical phenotype

A. Oldham et al.

Summary: Mucopolysaccharidosis VII, also known as Sly syndrome, is an autosomal recessive disorder caused by a deficiency in the enzyme Beta-glucuronidase (GUSB). This rare disease leads to the accumulation of glycosaminoglycans in various tissues, resulting in multisystem damage. The case report presented a 31-year-old male patient who was diagnosed with MPS VII at the age of 28.

MOLECULAR GENETICS AND METABOLISM REPORTS (2022)

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Article

Danon Cardiomyopathy

Antigoni Miliou et al.

JACC: Case Reports (2022)

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Review Genetics & Heredity

Rare lysosomal disease registries: lessons learned over three decades of real-world evidence

P. K. Mistry et al.

Summary: Lysosomal storage disorders (LSD) are rare diseases caused by inherited deficiencies of lysosomal enzymes/transporters, affecting 1 in 7000 to 1 in 8000 newborns. Individuals with LSDs face long diagnostic journeys and potentially life-threatening events. The Rare Disease Registries (RDR) were established 30 years ago to bridge the knowledge gap of natural history, disease progression, and clinical outcomes of LSDs.

ORPHANET JOURNAL OF RARE DISEASES (2022)

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Review Medicine, General & Internal

Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement

Sahrai Saeed et al.

Summary: Fabry disease is a rare X-linked genetic disease characterized by deficient enzyme activity, leading to disrupted metabolism and multiple organ involvement. Enzyme replacement therapy is an established treatment that improves quality of life and reduces cardiac burden.

PAKISTAN JOURNAL OF MEDICAL SCIENCES (2022)

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Review Cardiac & Cardiovascular Systems

SGLT2 Inhibitors and Heart Failure with Preserved Ejection Fraction

Pardeep S. Jhund

HEART FAILURE CLINICS (2022)

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Review Pharmacology & Pharmacy

Fabry disease: Mechanism and therapeutics strategies

Xi Li et al.

Summary: Fabry disease is a monogenic disorder characterized by a deficiency or loss of GLA, leading to the progressive appearance of clinical symptoms in target organs. Current clinical approaches for treating Fabry disease have shown some effectiveness but have limitations that need to be addressed.

FRONTIERS IN PHARMACOLOGY (2022)

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Article Genetics & Heredity

Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa

Burcu Kumru Akin et al.

Summary: This case report describes a successful reversal of cardiomyopathy in a child with GSDIIIa through a high-fat, high-protein and low-carbohydrate diet.

MOLECULAR GENETICS AND METABOLISM REPORTS (2022)

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Article Medicine, General & Internal

Infantile Sandhoff disease with ventricular septal defect: a case report

Jamal Khaled Sahyouni et al.

Summary: This case report describes a patient with infantile Sandhoff disease who exhibited cardiac symptoms associated with a rare ventricular septal defect, ultimately leading to a fatal outcome.

JOURNAL OF MEDICAL CASE REPORTS (2022)

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Article Biochemistry & Molecular Biology

Clinical, endocrine and genetic spectrums of mucopolysaccharidoses type VI in Duhok city, Kurdistan region, Iraq

Azad A. Haleem

Summary: This study investigated the socio-demographic characteristics, clinical manifestations, and anthropometric parameters of patients with MPS type VI. The enzyme levels and genetic profiles of the patients were also examined. The results showed that MPS type VI patients presented with various clinical symptoms, including abnormal facial features, short stature, and corneal clouding. Early detection and treatment are crucial for improving the prognosis.

CELLULAR AND MOLECULAR BIOLOGY (2022)

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Article Medicine, General & Internal

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation

Evelina Siavriene et al.

Summary: This study investigates the clinical and molecular data of three individuals from two unrelated families with pathogenic variants in the PIGN gene. PIGN-related disease represents a wide spectrum of phenotypic features, making clinical diagnosis inaccurate and complicated.

MEDICINA-LITHUANIA (2022)

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Article Medicine, General & Internal

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Bruno de Oliveira Stephan et al.

Summary: This study reports the variable progression of MPS II in a large Brazilian family, with or without enzyme replacement therapy (ERT). Despite different phenotypes within the same family, most patients were able to live an independent lifestyle.

CLINICS (2022)

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Article Biochemistry & Molecular Biology

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Annekatrien Boel et al.

Summary: The molecular mechanisms linking disrupted GLUT10 activity with arterial malformations in ATS patients are largely unknown. Recent advances have outlined the role of GLUT10 as an intracellular transporter and its impact on collagen and elastin cross-linking, redox homeostasis, and epigenetic regulation. Future research directions include centralizing clinical data for better patient management and establishing representative animal disease models to study pathomechanisms underlying ATS.

ANTIOXIDANTS & REDOX SIGNALING (2021)

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Review Endocrinology & Metabolism

Novel therapies for mucopolysaccharidosis typeIII

Berna Seker Yilmaz et al.

Summary: MPS III, a neurodegenerative disease, currently lacks disease-modifying therapy, but multiple curative therapies have been developed, emphasizing the importance of early treatment before extensive neuronal loss occurs.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article

Transcatheter aortic valve implantation for severe aortic stenosis in a patient with mucopolysaccharidosis type II (Hunter syndrome) accompanied by severe airway obstruction

Naoto Mori et al.

Journal of Cardiology Cases (2021)

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Article Pediatrics

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

Thipwimol Tim-Aroon et al.

Summary: Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder caused by deficiency of beta -hexosaminidase B (HEX-B) due to pathogenic variant of human HEXB gene. This study identified potential common variant in HEXB in Thai patients with infantile onset SD and provided data that can aid in rapid molecular confirmation of the disease.

BMC PEDIATRICS (2021)

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Article Cardiac & Cardiovascular Systems

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

Josef Marek et al.

Summary: MPS VII is a rare lysosomal storage disorder caused by mutations in the GUSB gene. Patients often present with cardiac and valvular impairment. Surgical intervention can lead to significant improvement in clinical symptoms.

CARDIOVASCULAR PATHOLOGY (2021)

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Article Endocrinology & Metabolism

An international classification of inherited metabolic disorders (ICIMD)

Carlos R. Ferreira et al.

Summary: The International Classification of Inherited Metabolic Disorders (ICIMD) is a comprehensive classification system involving input from a large number of experts and endorsement from major metabolic societies globally. It aims to improve understanding of the interconnections between different conditions sharing similar characteristics, and guarantees continued relevance through regular curation and expert advice.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article Endocrinology & Metabolism

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Guido Vogt et al.

Summary: This study identified pathogenic variants in ATP6V1A as the cause of autosomal recessive cutis laxa type 2D (ARCL2D). The affected individuals showed severe cutis laxa at birth, with some passing away in infancy and others now being adolescents with mild or absent intellectual disability. Functional studies revealed cellular abnormalities in fibroblasts, highlighting the clinical variability of ATP6V1A related phenotypes even within the same family.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article Pediatrics

Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience

Dulce Quelhas et al.

Summary: This study describes the clinical, biochemical, and genetic features of new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. The majority of Portuguese patients with CDGs are PMM2-CDG, while the mutational spectrum of PMM2-CDG in Portugal shows a striking similarity to that in Spain.

JOURNAL OF PEDIATRICS (2021)

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Article Genetics & Heredity

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Anna Bogdanska et al.

Summary: This study describes the clinical, biochemical, and molecular findings of CDG patients and presents long-term follow-up results. Multiple serum Tf isoform measurements and statistical analysis reveal differences among CDG patients. Mannose supplementation in MPI-CDG patients and galactose supplementation in PGM1-CDG patients show improvement in clinical status and Tf isoform profiles.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Review Cell Biology

Fukutin-Related Protein: From Pathology to Treatments

Carolina Ortiz-Cordero et al.

Summary: FKRP is a glycosyltransferase crucial for the functional glycosylation of alpha-dystroglycan, playing a key role in dystroglycanopathies. Recent studies have revealed the function of FKRP, opening up therapeutic opportunities for patients with FKRP mutations, including small molecules, gene delivery, and cell therapy. Preclinical studies show promise for treating FKRP-associated dystroglycanopathies.

TRENDS IN CELL BIOLOGY (2021)

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Article Medicine, General & Internal

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

Hsiang-Yu Lin et al.

Summary: The study found that aortic root dilatation is common in patients with MPS, with the most severe dilation seen in MPS IV patients. The severity of aortic root dilatation worsens with age. Enzyme replacement therapy appears to stabilize the progression of aortic root dilatation in MPS patients.

DIAGNOSTICS (2021)

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Article Clinical Neurology

Deciphering the premature mortality in PIGA-CDG - An untold story

Allan Bayat et al.

Summary: This study assessed the high mortality rate and causes of death in patients with PIGA-CDG, revealing that out of 88 patients, 30 died prematurely, resulting in an overall mortality rate of 30%. The study found that respiratory failure was the leading cause of death in these patients, highlighting an increased risk of premature death compared to most monogenic developmental and epileptic encephalopathies.

EPILEPSY RESEARCH (2021)

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Article Endocrinology & Metabolism

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG

Hind Alsharhan et al.

Summary: ALG3-CDG is a monogenic disorder causing multisystem issues, with newly reported symptoms including endocrine abnormalities, neural tube defects, and immunodeficiency. Unique N-glycan changes in patients can aid in diagnosis and management.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article Genetics & Heredity

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

Asli Inci et al.

Summary: This study described the clinical manifestations and events of Turkish patients with MPS VI who received ERT, showing improvements in endurance and a decrease in urinary incontinence after 1.9 to 3.2 years of treatment. However, ERT did not prevent the progression of certain complications. Long-term data revealed a shift in the nature of events over time, with a decrease in respiratory tract infections and sleep problems, but an increase in ophthalmologic events, ear tube insertions, and depression.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Endocrinology & Metabolism

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study

Dafne D. G. Horovitz et al.

Summary: The study found that early initiation of enzyme replacement therapy with galsulfase in MPS VI patients is safe and well tolerated, improving growth velocity and pubertal development. However, ERT does not seem to completely prevent disease progression and death, although early treatment may have a positive impact on patient survival.

MOLECULAR GENETICS AND METABOLISM (2021)

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Article Endocrinology & Metabolism

Morquio B disease: From pathophysiology towards diagnosis

Anna Caciotti et al.

Summary: Morquio B disease is a rare genetic disorder characterized by skeletal abnormalities, ligament laxity, and heart valve defects. Patients exhibit normal neurological development, distinguishing them from more severe conditions like GM1 gangliosidosis. This study presents clinical, biochemical, and molecular data to propose a diagnostic plan for accurate diagnosis and improved patient management.

MOLECULAR GENETICS AND METABOLISM (2021)

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Review Clinical Neurology

Cardiovascular disease in non-classic Pompe disease: A systematic review

H. A. van Kooten et al.

Summary: Pompe disease is a rare inherited disorder with a spectrum of presentation, from classic infantile form to non-classic form. While severe cardiac involvement is common in classic infantile Pompe disease, it is rare in non-classic cases. Non-classic Pompe patients may present vascular abnormalities, such as aneurysms and arterial dolichoectasia, indicating a need for further research on the prevalence and etiology of cardiovascular disease in these patients.

NEUROMUSCULAR DISORDERS (2021)

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Article Genetics & Heredity

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II

Hsiang-Yu Lin et al.

Summary: This study found high prevalence rates of valvular heart disease and cardiac hypertrophy in MPS II patients, with these cardiac abnormalities worsening with age. Enzyme replacement therapy appeared effective in stabilizing or reducing the progression of cardiac hypertrophy, but had limited effect on valvular heart disease.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Pediatrics

Congenital disorders of glycosylation in children- Histopathological and ultrastructural changes in the liver

Patryk Lipinski et al.

Summary: The study aimed to characterize liver histopathological and ultrastructural changes in CDG patients. The most common histopathologic finding was liver steatosis and foamy degeneration of hepatocytes. In some patients, liver steatosis was associated with fibrosis and mild inflammatory infiltrates.

PEDIATRICS AND NEONATOLOGY (2021)

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Article Genetics & Heredity

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

Bobby G. Ng et al.

Summary: The study identified a recurrent mutation in SLC37A4 causing a dominantly inherited congenital disorder of glycosylation characterized by coagulopathy and liver dysfunction with abnormal serum N-glycans. Liver-specific abnormalities in glycosylation were replicated in a CRISPR base-edited hepatoma cell line carrying the mutation. The mutant protein showed relocation to a non-Golgi compartment and altered Golgi morphology and reduced intraluminal pH, potentially explaining the glycosylation alterations.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Medical Laboratory Technology

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia

Shule Zhang et al.

Summary: A Chinese infant with thiamine-responsive megaloblastic anemia was found to have two novel compound heterozygous variants in the SLC19A2 gene. Analysis of literature, whole-exome sequencing, and bioinformatics software revealed genotype-phenotype associations and characteristics of TRMA patients.

CLINICA CHIMICA ACTA (2021)

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Article Genetics & Heredity

COG1-congenital disorders of glycosylation: Milder presentation and review

Marne Salazar et al.

Summary: Congenital disorders of glycosylation (CDG) are a group of genetic defects involving glycoprotein and glycolipid glycan synthesis. COG1-CDG, caused by defects in the COG1 gene, has been reported in five patients, including the case presented in this report.

CLINICAL GENETICS (2021)

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Article Genetics & Heredity

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

Nazreen Kamarus Jaman et al.

Summary: The key diagnostic features of SRD5A3-CDG include early-onset ophthalmological problems such as retinal dystrophy and optic nerve hypoplasia. The condition is also characterized by variable neurological symptoms, including intellectual disability, ataxia, and hypotonia. Other findings in this study include skin lesions, joint laxity, and scoliosis, as well as additional symptoms like dystonia, anxiety disorder, and gastrointestinal issues.ródzenia.

FRONTIERS IN GENETICS (2021)

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Article Genetics & Heredity

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

Katalin Komlosi et al.

Summary: The cases highlight the phenotypic variability of glycosylation disorders, emphasizing the importance of broadening the differential diagnosis of ichthyosis and actively searching for organ involvement in neonates with ichthyosis. The report describes two neonatal cases of lethal ichthyosis from the same family, caused by compound heterozygous variants in the DOLK gene.

FRONTIERS IN GENETICS (2021)

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Article Genetics & Heredity

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

Gabriella Doddato et al.

Summary: Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in the XYLT2 gene, presenting with high phenotypic variability. This study reports two siblings with a novel homozygous frameshift variant in XYLT2, expanding the clinical and mutational spectrum of SOS.

FRONTIERS IN GENETICS (2021)

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Review Biochemistry & Molecular Biology

An Overview of Glycosylation and its Impact on Cardiovascular Health and Disease

Karen Julissa Loaeza-Reyes et al.

Summary: The cardiovascular system relies on glycosylation for various functions, involving N-glycosylation, O-glycosylation, and O-GlcNAcylation. These modifications play crucial roles in signal reception, transduction, and cellular response to external stimuli in different conditions such as physiological states, ischemia/reperfusion, exercise, and low-grade inflammation in diabetes and aging. Mutations in glycosyltransferases and receptors have been linked to cardiovascular diseases, suggesting that understanding glycosylation and its effects may provide potential therapeutic interventions.

FRONTIERS IN MOLECULAR BIOSCIENCES (2021)

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Review Genetics & Heredity

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Ghada Hijazi et al.

Summary: This study describes the clinical characteristics and outcomes of adult patients with GSD III, showing multisystem involvement with muscle weakness as the major cause of morbidity. A multidisciplinary approach with regular follow-up is necessary for optimal management.

MOLECULAR GENETICS AND METABOLISM REPORTS (2021)

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Article Endocrinology & Metabolism

Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy

Paula Garcia et al.

Summary: The study evaluated the long-term outcomes of MPS VI patients treated with galsulfase enzyme replacement therapy since infancy, indicating that very early and continuous treatment can slow down the clinical course of the disease, preserving endurance, functional dexterity, and certain motor skills, while showing limited impact on growth and cardiac disease but unable to prevent progression of skeletal or eye diseases over the long term.

MOLECULAR GENETICS AND METABOLISM (2021)

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Article Multidisciplinary Sciences

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

Zahra Beyzaei et al.

Summary: Glycogen storage diseases (GSDs) are complex disorders with overlapping manifestations that require accurate testing for diagnosis. This study used targeted gene sequencing (TGS) to identify specific diagnosis features in patients with GSD, showing that combining TGS with clinical, biochemical, and pathological features can provide accurate and high-throughput results for diagnosing and sub-typing GSD and related diseases.

SCIENTIFIC REPORTS (2021)

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Review Biochemistry & Molecular Biology

Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look

Federica Conte et al.

Summary: Galactose is essential for cellular metabolism and glycosylation, playing important roles in energy production, storage, and various biological functions. Defects in galactosylation and galactose homeostasis can lead to a range of pathogenic conditions, underscoring the significance of galactose metabolism in human health.

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2021)

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Article Peripheral Vascular Disease

The Elderly with Glucose-6-Phosphate Dehydrogenase Deficiency are More Susceptible to Cardiovascular Disease

Maria Pina Dore et al.

Summary: Recent studies indicate that G6PD deficiency may be a risk factor for cardiovascular disease, especially in individuals over the age of 60. The risk of CVD is higher in G6PD-deficient individuals, particularly in males, after adjusting for traditional CVD risk factors and H. pylori infection.

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2021)

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Article Cardiac & Cardiovascular Systems

Double valve replacement in a patient with Maroteaux - Lamy syndrome as an ultimate team challenge

Alexandros Agron Demis et al.

Summary: Patients with Maroteaux-Lamy syndrome pose challenges for both anesthesiologists and cardiac surgeons. The team should be prepared to handle difficulties in airway management, ventilation, and surgical valve exposure. Cardiac surgeons may need to offer additional procedures and even replace moderately diseased valves prematurely to avoid risky reoperations.

JOURNAL OF CARDIOTHORACIC SURGERY (2021)

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Letter Anesthesiology

Transversus thoracis muscle plane blocks for a patient with Maroteaux-Lamy syndrome undergoing mitral valve replacement

Jenna Zauk et al.

JOURNAL OF CLINICAL ANESTHESIA (2021)

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Letter Anesthesiology

Preoperative cardiac POCUS for urgent surgery in a patient with Maroteaux-Lamy syndrome

Irim Salik et al.

JOURNAL OF CLINICAL ANESTHESIA (2021)

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Article Endocrinology & Metabolism

A new D-galactose treatment monitoring index for PGM1-CDG

Ester Perales-Clemente et al.

Summary: PGM1 deficiency, initially defined as a glycogen storage disorder, was later re-classified as PGM1-congenital disorder of glycosylation. Analysis of serum transferrin glycan isoforms is used as a primary diagnostic tool. Oral d-galactose supplementation has been shown to significantly improve clinical and metabolic outcomes in PGM1-CDG patients.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article Genetics & Heredity

A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry

Marie Julianne C. Racoma et al.

Summary: This study reviewed the clinical outcomes of Filipino MPS II patients who were treated with idursulfase and those who were untreated. The treated group showed improvements in various endpoints, while the untreated group exhibited typical disease progression.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Review Ophthalmology

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

Martina Farolfi et al.

Summary: ALG3-CDG is a rare autosomal recessive disease characterized by severe neurologic, cardiac, musculoskeletal, and ocular phenotype. Visual impairment in ALG3-CDG is most commonly linked to optic nerve hypoplasia.

BMC OPHTHALMOLOGY (2021)

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Article Cardiac & Cardiovascular Systems

Surgical management of an aortic root dilatation in a patient suffering from Hunter syndrome

Bastien Poitier et al.

Summary: Hunter syndrome is a rare disease that can lead to glycosaminoglycan accumulation in tissues, affecting multiple organs. Prognosis is mainly influenced by cardiac and respiratory failures. Patients with Hunter syndrome may have a risk of aortic root dilatation, necessitating periodic monitoring with diagnosis based on indexed measures.

INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY (2021)

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Article Medicine, General & Internal

Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

Cecilia Lazea et al.

Summary: Gaucher disease is one of the most common lysosomal disorders characterized by clinical heterogeneity, with rare cardiac involvement. This study evaluated cardiac involvement in Romanian GD patients, finding that 13% exhibited signs of pulmonary hypertension, 48% had mitral regurgitation, and 16% had aortic regurgitation. Significant valve dysfunction was diagnosed in 10% of patients.

DIAGNOSTICS (2021)

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Article Genetics & Heredity

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Patryk Lipinski et al.

Summary: This study evaluated the prevalence, incidence, and genotypes of CDG patients in Poland, with the prevalence estimated at approximately 1 per million for CDG and 0.4 per million for PMM2. The annual incidence of CDG was estimated at 0.013 per 100,000 people in 2020. The low frequency of CDG observed in this study may have been underestimated.

MOLECULAR GENETICS AND METABOLISM REPORTS (2021)

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Review Genetics & Heredity

Heart transplantation in Danon disease: Long term single centre experience and review of the literature

Concetta Di Nora et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)

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Article Endocrinology & Metabolism

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

A. Broomfield et al.

MOLECULAR GENETICS AND METABOLISM (2020)

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Review Pharmacology & Pharmacy

SGLT1 inhibition boon or bane for diabetes-associated cardiomyopathy

Jaspreet Kalra et al.

FUNDAMENTAL & CLINICAL PHARMACOLOGY (2020)

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Article Endocrinology & Metabolism

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Kittichate Visuttijai et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

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Article Genetics & Heredity

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation

Rachel Sayuri Honjo et al.

BMC MEDICAL GENETICS (2020)

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Article Endocrinology & Metabolism

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

Alessandro Rossi et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

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Article Cardiac & Cardiovascular Systems

Enzyme Replacement Therapy Decreases Left Ventricular Mass Index in Patients with Hunter Syndrome?

Daniel Almeida do Valle et al.

PEDIATRIC CARDIOLOGY (2020)

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Article Medicine, General & Internal

Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation

Oliver Bundgaard Vad et al.

JOURNAL OF CLINICAL MEDICINE (2020)

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Article Cell Biology

The Lysosomal Membrane Protein Lamp2 Alleviates Lysosomal Cell Death by Promoting Autophagic Flux in Ischemic Cardiomyocytes

Lin Cui et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)

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Article Medicine, General & Internal

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Yasuyuki Suzuki et al.

DIAGNOSTICS (2020)

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Article Medicine, General & Internal

Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses

Hsiang-Yu Lin et al.

DIAGNOSTICS (2020)

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Review Clinical Neurology

Lessons learned from 40 novel PIGA patients and a review of the literature

Allan Bayat et al.

EPILEPSIA (2020)

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Review Biochemistry & Molecular Biology

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Rossella Parini et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Review Endocrinology & Metabolism

RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature

Rahul Phadke et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

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Letter Pediatrics

On air diagnosis of sudden cardiac death with dynamic Holter ECG in glycogen storage disease type III young female

Martina Focardi et al.

MINERVA PEDIATRICA (2020)

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Article Clinical Neurology

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

Lindsay B. Murphy et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)

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Article Endocrinology & Metabolism

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

Asburce Olgac et al.

ANNALS OF NUTRITION AND METABOLISM (2020)

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Review Cell Biology

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Christiane S. Hampe et al.

CELLS (2020)

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Article Medicine, Research & Experimental

Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q

Jing Hu et al.

CURRENT MEDICAL SCIENCE (2020)

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Article Genetics & Heredity

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings

Yue Bian et al.

JOURNAL OF HUMAN GENETICS (2020)

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Article Endocrinology & Metabolism

Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa

Caiqi Du et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2020)

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Article Biochemistry & Molecular Biology

Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate

Christof Trabszo et al.

BIOCHEMICAL JOURNAL (2020)

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Article Endocrinology & Metabolism

Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses

Ahmed Ayuna et al.

MOLECULAR GENETICS AND METABOLISM (2020)

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Article Endocrinology & Metabolism

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots

Federica Conte et al.

MOLECULAR GENETICS AND METABOLISM (2020)

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Article Clinical Neurology

Cardiomyopathy in limb girdle muscular dystrophyR9,FKRPrelated

Eric M. Libell et al.

MUSCLE & NERVE (2020)

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Review Economics

A Systematic Review of Medical Costs Associated with Heart Failure in the USA (2014-2020)

Michael Urbich et al.

PHARMACOECONOMICS (2020)

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Article Genetics & Heredity

Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1

Shi-qi Xiao et al.

FRONTIERS IN GENETICS (2020)

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Article Genetics & Heredity

Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I

Kenta Sugiura et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2020)

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Article Genetics & Heredity

Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

Marlen Goerlacher et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2020)

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Article Cardiac & Cardiovascular Systems

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging

Shawn Lyo et al.

EUROPEAN HEART JOURNAL-CASE REPORTS (2020)

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Article Multidisciplinary Sciences

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA

Tatiana Marusic et al.

DATA IN BRIEF (2020)

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Review Cardiac & Cardiovascular Systems

Mucopolysaccharidoses Causing Valvular Heart Disease: Report and Review of Surgical Management

Carlos O. Encarnacion et al.

WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY (2020)

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Article Pediatrics

Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method

Mirela F. A. Andrade et al.

JORNAL DE PEDIATRIA (2019)

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Article Clinical Neurology

Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings

Narutoshi Yamazaki et al.

BRAIN & DEVELOPMENT (2019)

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Article Genetics & Heredity

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Leroy ten Dam et al.

CLINICAL GENETICS (2019)

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Article Endocrinology & Metabolism

Cardiac disease in mucopolysaccharidosis type III

Stephanie C. M. Nijmeijer et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

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Review Endocrinology & Metabolism

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Ruqaiah Altassan et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

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Article Endocrinology & Metabolism

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Monique Williams et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

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Editorial Material Cardiac & Cardiovascular Systems

Visual Loss Post Ross Procedure in an Adolescent With Newly Diagnosed Mucopolysaccharidosis Type II

Lara Curran et al.

ANNALS OF THORACIC SURGERY (2019)

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Article Endocrinology & Metabolism

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG

Walinka van Tol et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

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Article Endocrinology & Metabolism

Two siblings with Gaucher type 3c: different clinical presentations

Miray Karakoyun et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2019)

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Article Endocrinology & Metabolism

Gaucher disease type 3c: New patients with unique presentations and review of the literature

Mina Kurolap et al.

MOLECULAR GENETICS AND METABOLISM (2019)

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Article Genetics & Heredity

Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation

Yang Liu et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

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Article Pediatrics

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

Xin Li et al.

BMC PEDIATRICS (2019)

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Article Genetics & Heredity

The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood

Eva Fernlund et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2019)

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Article Genetics & Heredity

Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI

Majid Aminzadeh et al.

GENE (2019)

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Article Endocrinology & Metabolism

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Christina Lampe et al.

MOLECULAR GENETICS AND METABOLISM (2019)

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Article Genetics & Heredity

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

Monika Meinert et al.

OPHTHALMIC GENETICS (2019)

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Article Genetics & Heredity

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

Hsiang-Yu Lin et al.

ORPHANET JOURNAL OF RARE DISEASES (2019)

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Review Pathology

Update on polyglucosan storage diseases

Giovanna Cenacchi et al.

VIRCHOWS ARCHIV (2019)

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Review Endocrinology & Metabolism

Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature

Shawn Tahata et al.

MOLECULAR GENETICS AND METABOLISM (2019)

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Article Genetics & Heredity

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

Marco Ritelli et al.

GENES (2019)

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Article Endocrinology & Metabolism

The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

Berrak Bilginer Gurbuz et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2019)

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Article Genetics & Heredity

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

Piranit N. Kantaputra et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

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Article Neurosciences

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Pascal Laforet et al.

ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)

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Article Endocrinology & Metabolism

Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter

Elizabeth Braunlin et al.

MOLECULAR GENETICS AND METABOLISM (2019)

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Article Clinical Neurology

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review

Wo-Tu Tian et al.

NEUROMUSCULAR DISORDERS (2019)

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Article Clinical Neurology

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency

Carola Hedberg-Oldfors et al.

NEUROMUSCULAR DISORDERS (2019)

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Article Medicine, General & Internal

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient

Mesaki Kenneth Ndugga-Kabuye et al.

BMJ CASE REPORTS (2019)

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Review Neurosciences

Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients

Dan-Ni Wang et al.

INTERNATIONAL JOURNAL OF NEUROSCIENCE (2018)

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Article Clinical Neurology

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum

Martin Krenn et al.

JOURNAL OF NEUROLOGY (2018)

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Editorial Material Endocrinology & Metabolism

Severe ichthyosis in MPDU1-CDG

Christian Thiel et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

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Article Pathology

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV

Weiming Yu et al.

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2018)

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Article Hematology

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy

Neal J. Weinreb et al.

BLOOD CELLS MOLECULES AND DISEASES (2018)

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Article Cardiac & Cardiovascular Systems

Early childhood onset of high-grade atrioventricular block in Hunter syndrome

Meghan M. Chlebowski et al.

CARDIOLOGY IN THE YOUNG (2018)

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Article Cardiac & Cardiovascular Systems

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient

Gabriela Dostalova et al.

CARDIOVASCULAR PATHOLOGY (2018)

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Article Cell Biology

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia

Xiaoying Xian et al.

CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2018)

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Review Endocrinology & Metabolism

Biochemical and clinical aspects of glycogen storage diseases

Sara S. Ellingwood et al.

JOURNAL OF ENDOCRINOLOGY (2018)

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Article Endocrinology & Metabolism

Natural history of echocardiographic abnormalities in mucopolysaccharidosis III

Carolyn M. Wilhelm et al.

MOLECULAR GENETICS AND METABOLISM (2018)

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Review Genetics & Heredity

Epidemiology of Sanfilippo syndrome: results of a systematic literature review

Tamas Zelei et al.

ORPHANET JOURNAL OF RARE DISEASES (2018)

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Article Multidisciplinary Sciences

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency

Huan T. Nguyen et al.

SCIENTIFIC REPORTS (2018)

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Article Genetics & Heredity

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

Dominique P. Germain et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2018)

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Article Endocrinology & Metabolism

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene

Yu Ding et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2018)

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Article Endocrinology & Metabolism

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients

Amel Ben Chehida et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2018)

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Article Clinical Neurology

National registry of patients with Fukuyama congenital muscular dystrophy in Japan

Keiko Ishigaki et al.

NEUROMUSCULAR DISORDERS (2018)

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Article Genetics & Heredity

The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses

Hsiang-Yu Lin et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2018)

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Article Biochemistry & Molecular Biology

A Nationwide Survey on Danon Disease in Japan

Kazuma Sugie et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)

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Article Biochemistry & Molecular Biology

Phosphoglucomutase 1 inhibits hepatocellular carcinoma progression by regulating glucose trafficking

Guang-Zhi Jin et al.

PLOS BIOLOGY (2018)

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Article Public, Environmental & Occupational Health

Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence

Donald Waters et al.

JOURNAL OF GLOBAL HEALTH (2018)

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Article Medicine, Research & Experimental

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

Xiao-Yan Wen et al.

JCI INSIGHT (2018)

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Article Pediatrics

Arrhythmia in thiamine responsive megaloblastic anemia syndrome

Mustafa Argun et al.

TURKISH JOURNAL OF PEDIATRICS (2018)

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Article Genetics & Heredity

Aortic calcification in Gaucher disease: a case report

Saud Alsahli et al.

APPLICATION OF CLINICAL GENETICS (2018)

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Article Cardiac & Cardiovascular Systems

Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease

Rachel L. Bounds et al.

WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY (2018)

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Article Anesthesiology

Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome)

Kazuchika Suzuki et al.

JA CLINICAL REPORTS (2018)

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Article Genetics & Heredity

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs

Fatma Bastaki et al.

ANNALS OF HUMAN GENETICS (2018)

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Article Cardiac & Cardiovascular Systems

Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy

Ibrahim El-Battrawy et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)

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Review Endocrinology & Metabolism

Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature

Carola Hedberg-Oldfors et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

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Article Genetics & Heredity

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

Junpei Tanigawa et al.

HUMAN MUTATION (2017)

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Article Cardiac & Cardiovascular Systems

Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy)

Fatima Samad et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2017)

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Review Biochemistry & Molecular Biology

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

Jerome Stirnemann et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)

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Article Cardiac & Cardiovascular Systems

The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: morphological and functional evaluations

Alberto Roghi et al.

JOURNAL OF CARDIOVASCULAR MEDICINE (2017)

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Article Endocrinology & Metabolism

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation

Su Han Lum et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

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Review Endocrinology & Metabolism

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

D. Marques-da-Silva et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

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Article Genetics & Heredity

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Manuel Schiff et al.

JOURNAL OF MEDICAL GENETICS (2017)

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Article Endocrinology & Metabolism

A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene

Ayse Kartal et al.

METABOLIC BRAIN DISEASE (2017)

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Article Endocrinology & Metabolism

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

Amal Al Teneiji et al.

MOLECULAR GENETICS AND METABOLISM (2017)

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Article Clinical Neurology

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NEUROMUSCULAR DISORDERS (2017)

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Article Genetics & Heredity

Mortality in patients with Sanfilippo syndrome

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ORPHANET JOURNAL OF RARE DISEASES (2017)

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PIGO deficiency: palmoplantar keratoderma and novel mutations

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ORPHANET JOURNAL OF RARE DISEASES (2017)

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Article Genetics & Heredity

Early disease progression of Hurler syndrome

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ORPHANET JOURNAL OF RARE DISEASES (2017)

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Delivery of anesthesia for children with Mucopolysaccharidosis Type III (Sanfilippo syndrome): a review of 86 anesthetics

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PEDIATRIC ANESTHESIA (2017)

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Article Multidisciplinary Sciences

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SCIENTIFIC REPORTS (2017)

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Review Genetics & Heredity

Genetics and genomics of dilated cardiomyopathy and systolic heart failure

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GENOME MEDICINE (2017)

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Review Pharmacology & Pharmacy

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EXPERT OPINION ON ORPHAN DRUGS (2017)

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Article Cardiac & Cardiovascular Systems

Outcome of Combined Mitral and Aortic Valve Replacement in Adults With Mucopolysaccharidosis (the Hurler Syndrome)

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AMERICAN JOURNAL OF CARDIOLOGY (2017)

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Article Genetics & Heredity

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

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MOLECULAR GENETICS AND METABOLISM REPORTS (2017)

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Limitations of galactose therapy in phosphoglucomutase 1 deficiency

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MOLECULAR GENETICS AND METABOLISM REPORTS (2017)

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Review Genetics & Heredity

ALG9-CDG: New clinical case and review of the literature

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MOLECULAR GENETICS AND METABOLISM REPORTS (2017)

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Article Genetics & Heredity

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

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Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

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Article Genetics & Heredity

Congenital disorders of glycosylation: The Saudi experience

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

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Review Cardiac & Cardiovascular Systems

Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature

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CARDIOLOGY IN THE YOUNG (2017)

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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

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CLINICAL GENETICS (2017)

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Alu-mediated deletion of PIGL in a Patient with CHIME syndrome

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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

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Article Clinical Neurology

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations

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BRAIN & DEVELOPMENT (2017)

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

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AMERICAN JOURNAL OF HUMAN GENETICS (2017)

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Article Genetics & Heredity

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

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Article Genetics & Heredity

Genotype-Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/PIGN-Related Epilepsy

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Article Biochemistry & Molecular Biology

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

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EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

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Article Genetics & Heredity

SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation with Emphasis on Adult Onset Features

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Editorial Material Cardiac & Cardiovascular Systems

Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era

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ANNALS OF THORACIC SURGERY (2016)

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Article Biochemistry & Molecular Biology

Genetic defects in the hexosamine and sialic acid biosynthesis pathway

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BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2016)

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Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

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BMC MEDICAL GENETICS (2016)

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Article Genetics & Heredity

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

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Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor

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Article Biochemistry & Molecular Biology

Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

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Article Genetics & Heredity

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

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HUMAN GENETICS (2016)

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Letter Pediatrics

Gaucher's Disease with Cardiac Valve Calcification and Stenosis: A Rare Presentation due to Homozygous p.D409H Mutation in a North Indian Family

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INDIAN JOURNAL OF PEDIATRICS (2016)

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Letter Cardiac & Cardiovascular Systems

Fukutin gene mutations that cause left ventricular noncompaction

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INTERNATIONAL JOURNAL OF CARDIOLOGY (2016)

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Article Endocrinology & Metabolism

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

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Article Endocrinology & Metabolism

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

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JOURNAL OF INHERITED METABOLIC DISEASE (2016)

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Article Genetics & Heredity

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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JOURNAL OF MEDICAL GENETICS (2016)

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Article Pediatrics

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

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Article Pediatrics

Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I

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Article Endocrinology & Metabolism

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres

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Article Endocrinology & Metabolism

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI

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MOLECULAR GENETICS AND METABOLISM (2016)

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Article Clinical Neurology

Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease

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Article Clinical Neurology

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

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Article Genetics & Heredity

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012

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Review Genetics & Heredity

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series

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Article Medicine, General & Internal

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

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ACTA CLINICA BELGICA (2016)

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Article Multidisciplinary Sciences

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)

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Article Genetics & Heredity

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

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Article Genetics & Heredity

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)

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Article Biochemistry & Molecular Biology

Aortic Root Dilatation in Mucopolysaccharidosis I-VII

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Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

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Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

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Phosphoglucomutase-1 Deficiency: Intrafamilial Clinical Variability and Common Secondary Adrenal Insufficiency

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Review Genetics & Heredity

The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review

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Article Genetics & Heredity

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

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Review Biochemistry & Molecular Biology

Transport of Sugars

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Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

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Expanding the phenotype of GMPPB mutations

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A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

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Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease

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Skeletal and cardiac muscle involvement in children with glycogen storage disease type III

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GLUT10 deficiency leads to oxidative stress and non-canonical ανβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

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Article Cardiac & Cardiovascular Systems

Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes

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Article Clinical Neurology

Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy

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Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome

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Article Endocrinology & Metabolism

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

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Article Endocrinology & Metabolism

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

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Article Endocrinology & Metabolism

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

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Article Genetics & Heredity

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

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The genotypic and phenotypic spectrum of PIGA deficiency

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ORPHANET JOURNAL OF RARE DISEASES (2015)

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Article Genetics & Heredity

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

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ORPHANET JOURNAL OF RARE DISEASES (2015)

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Article Cardiac & Cardiovascular Systems

Left Ventricular Diastolic Dysfunction in Type I Gaucher Disease: An Echo Doppler Study

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Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients

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MOLECULAR GENETICS AND METABOLISM REPORTS (2015)

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Review Genetics & Heredity

Sanfilippo syndrome: causes, consequences, and treatments

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Expanding the Spectrum of Phenotypes Associated With Germline PIGA Mutations: A Child With Developmental Delay, Accelerated Linear Growth, Facial Dysmorphisms, Elevated Alkaline Phosphatase, and Progressive CNS Abnormalities

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Article Genetics & Heredity

A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload

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Article Genetics & Heredity

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype

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Article Genetics & Heredity

Natural History and Galsulfase Treatment in Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome)-10-Year Follow-Up of Patients who Previously Participated in an MPS VI Survey Study

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Article Clinical Neurology

A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

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ANNALS OF NEUROLOGY (2014)

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Article Cardiac & Cardiovascular Systems

Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings

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Article Cardiac & Cardiovascular Systems

Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review

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CARDIOVASCULAR PATHOLOGY (2014)

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Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

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CLINICAL GENETICS (2014)

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Article Biochemistry & Molecular Biology

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Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

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Article Pediatrics

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Article Endocrinology & Metabolism

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

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JOURNAL OF INHERITED METABOLIC DISEASE (2014)

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Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center

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Article Endocrinology & Metabolism

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics

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Article Endocrinology & Metabolism

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

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JOURNAL OF INHERITED METABOLIC DISEASE (2014)

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Article Endocrinology & Metabolism

Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis

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MOLECULAR GENETICS AND METABOLISM (2014)

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Article Medicine, General & Internal

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

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Glycogen storage disease type III: modified Atkins diet improves myopathy

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Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

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Article Cardiac & Cardiovascular Systems

Asymptomatic Young Man with Danon Disease

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Review Biochemistry & Molecular Biology

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Review Geriatrics & Gerontology

Pompe disease: from pathophysiology to therapy and back again

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FRONTIERS IN AGING NEUROSCIENCE (2014)

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Article Genetics & Heredity

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

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Article Genetics & Heredity

Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene

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Review Cardiac & Cardiovascular Systems

Impact of glucose-6-phosphate dehydrogenase deficiency on the pathophysiology of cardiovascular disease

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AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2013)

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Article Clinical Neurology

Polyglucosan Body Myopathy Caused by Defective Ubiquitin Ligase RBCK1

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ANNALS OF NEUROLOGY (2013)

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Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I

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EUROPEAN JOURNAL OF HEART FAILURE (2013)

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Article Cardiac & Cardiovascular Systems

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

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HEART FAILURE REVIEWS (2013)

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Article Endocrinology & Metabolism

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

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Article Endocrinology & Metabolism

Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI

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Article Endocrinology & Metabolism

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

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Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience

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JOURNAL OF INHERITED METABOLIC DISEASE (2013)

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Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

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JOURNAL OF INHERITED METABOLIC DISEASE (2013)

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A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT

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Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

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MOLECULAR GENETICS AND METABOLISM (2013)

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Article Endocrinology & Metabolism

Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?

Nicolai Preisler et al.

MOLECULAR GENETICS AND METABOLISM (2013)

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Article Endocrinology & Metabolism

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

Dafne D. G. Horovitz et al.

MOLECULAR GENETICS AND METABOLISM (2013)

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Article Endocrinology & Metabolism

Up to five years experience with 11 mucopolysaccharidosis type VI patients

Marion M. M. G. Brands et al.

MOLECULAR GENETICS AND METABOLISM (2013)

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Article Endocrinology & Metabolism

Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings

Go Tajima et al.

MOLECULAR GENETICS AND METABOLISM (2013)

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Editorial Material Clinical Neurology

VITAMIN B6-RESPONSIVE EPILEPSY DUE TO INHERITED GPI DEFICIENCY

Ichiro Kuki et al.

NEUROLOGY (2013)

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Article Clinical Neurology

Limb-girdle muscular dystrophy type 21 is not rare in Taiwan

Wen-Chen Liang et al.

NEUROMUSCULAR DISORDERS (2013)

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Article Clinical Neurology

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia

Chiara Fiorillo et al.

NEUROMUSCULAR DISORDERS (2013)

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Article Clinical Neurology

Morphologic and Clinical Aspects of Danon Disease in a Patient with a Mutation c.137G > A in the LAMP-2 Gene

Anna Fidzianska et al.

NEUROPEDIATRICS (2013)

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Article Cardiac & Cardiovascular Systems

Massive Accumulation of Glycosaminoglycans in the Aortic Valve of a Patient With Hunter Syndrome During Enzyme Replacement Therapy

Yohei Sato et al.

PEDIATRIC CARDIOLOGY (2013)

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Article Genetics & Heredity

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Kai Wang et al.

GENOME MEDICINE (2013)

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Article Cardiac & Cardiovascular Systems

Sudden Death Associated With Danon Disease in Women

Daniela Miani et al.

AMERICAN JOURNAL OF CARDIOLOGY (2012)

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Article Genetics & Heredity

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter M. Krawitz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

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Article Genetics & Heredity

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Bobby G. Ng et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

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Article Genetics & Heredity

Retrospective Analysis of the Clinical Manifestations and Survival of Korean Patients With Mucopolysaccharidosis Type II: Emphasis on the Cardiovascular Complication and Mortality Cases

Young Bae Sohn et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

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Article Genetics & Heredity

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene

Marco Castori et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

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Article Clinical Neurology

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme et al.

BRAIN (2012)

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Article Cardiac & Cardiovascular Systems

The first cardiac transplant experience in a patient with mucopolysaccharidosis

Henrique Grinberg et al.

CARDIOVASCULAR PATHOLOGY (2012)

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Article Cardiac & Cardiovascular Systems

Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy

Zhongwei Cheng et al.

EUROPEAN HEART JOURNAL (2012)

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Review Cardiac & Cardiovascular Systems

Genetics of inherited cardiomyopathy

Daniel Jacoby et al.

EUROPEAN HEART JOURNAL (2012)

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Editorial Material Cardiac & Cardiovascular Systems

Valve surgery in a mucopolysaccharidosis type I patient: early prosthetic valve endocarditis

Rodolfo V. Rocha et al.

EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY (2012)

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Article Biochemistry & Molecular Biology

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Luca Bello et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

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Article Clinical Neurology

SRD5A3-CDG: A patient with a novel mutation

C. S. Kasapkara et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)

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Article Genetics & Heredity

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

F. Majer et al.

GENE (2012)

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Article Biochemistry & Molecular Biology

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGF signaling

Andy Willaert et al.

HUMAN MOLECULAR GENETICS (2012)

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Article Biochemistry & Molecular Biology

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Sharita Timal et al.

HUMAN MOLECULAR GENETICS (2012)

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Review Pathology

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review

Pilar L. Magoulas et al.

HUMAN PATHOLOGY (2012)

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Review Cardiac & Cardiovascular Systems

Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)

Adam Golda et al.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2012)

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Article Genetics & Heredity

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Amira Mili et al.

JOURNAL OF HUMAN GENETICS (2012)

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Article Endocrinology & Metabolism

Pregnancy and its management in women with GSD type III - a single centre experience

Radha Ramachandran et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

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Article Pediatrics

High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry

Pamela Arn et al.

JOURNAL OF PEDIATRIC SURGERY (2012)

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Article Endocrinology & Metabolism

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Akemi Tanaka et al.

MOLECULAR GENETICS AND METABOLISM (2012)

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Article Endocrinology & Metabolism

Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication

Gustavo H. Cabrera et al.

MOLECULAR GENETICS AND METABOLISM (2012)

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Article Immunology

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Bertrand Boisson et al.

NATURE IMMUNOLOGY (2012)

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Article Clinical Neurology

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia

Sayuri Sukigara et al.

NEUROMUSCULAR DISORDERS (2012)

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Article Clinical Neurology

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

M. Pane et al.

NEUROMUSCULAR DISORDERS (2012)

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Article Cardiac & Cardiovascular Systems

Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia

Laura I. Rudaks et al.

PEDIATRIC CARDIOLOGY (2012)

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Article Multidisciplinary Sciences

Glucose-6-Phosphate Dehydrogenase and NADPH Redox Regulates Cardiac Myocyte L-Type Calcium Channel Activity and Myocardial Contractile Function

Dhwajbahadur K. Rawat et al.

PLOS ONE (2012)

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Article Clinical Neurology

Enzyme Replacement Therapy in an Attenuated Case of Mucopolysaccharidosis Type I (Scheie Syndrome): A 6.5-Year Detailed Follow-Up

Agnieszka Jurecka et al.

PEDIATRIC NEUROLOGY (2012)

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Article Anesthesiology

Perioperative challenges in a patient of severe G6PD deficiency undergoing open heart surgery

Vivek Chowdhry et al.

ANNALS OF CARDIAC ANAESTHESIA (2012)

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Article Medicine, General & Internal

Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum

Tolga Aksu et al.

CASE REPORTS IN MEDICINE (2012)

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Article Genetics & Heredity

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

Sevjidmaa Baasanjav et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

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Article Cardiac & Cardiovascular Systems

Aortic stenosis in a patient with Hurler's syndrome after bone marrow transplantation

Naruhito Watanabe et al.

CARDIOLOGY IN THE YOUNG (2011)

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Review Cardiac & Cardiovascular Systems

Glucose metabolism and cardiac hypertrophy

Stephen C. Kolwicz et al.

CARDIOVASCULAR RESEARCH (2011)

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Letter Cardiac & Cardiovascular Systems

The proteoglycan-dystrophin complex in genetic cardiomyopathies-lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I)

Ali Yilmaz et al.

CLINICAL RESEARCH IN CARDIOLOGY (2011)

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Article Cardiac & Cardiovascular Systems

Aortic and Mitral Valve Stenosis with Regurgitation: Not Due to Rheumatic Heart Disease

Christopher J. Talluto et al.

ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES (2011)

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Article Peripheral Vascular Disease

Glucose-6-Phosphate Dehydrogenase (G6PDH) Deficiency in a Patient with ST-Segment Elevation Acute Myocardial Infarction Successfully Treated by Simple Thrombectomy

Italo Porto et al.

JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS (2011)

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Article Endocrinology & Metabolism

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world

Maria Veronica Munoz-Rojas et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

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Article Genetics & Heredity

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Gal Maydan et al.

JOURNAL OF MEDICAL GENETICS (2011)

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Article Oncology

Thiamine-Responsive Megaloblastic Anemia Syndrome With Atrial Standstill: A Case Report

Zehra Aycan et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2011)

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Article Pediatrics

Prevalence and Characterization of Cardiac Involvement in Hunter Syndrome

Christoph Kampmann et al.

JOURNAL OF PEDIATRICS (2011)

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Article Clinical Neurology

Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-l-iduronidase gene

Yutaka Furukawa et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)

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Article Endocrinology & Metabolism

Carotid intima-media thickness is increased in patients with mucopolysaccharidoses

Raymond Y. Wang et al.

MOLECULAR GENETICS AND METABOLISM (2011)

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Article Endocrinology & Metabolism

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI

Mahoko Furujo et al.

MOLECULAR GENETICS AND METABOLISM (2011)

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Article Endocrinology & Metabolism

Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I

Haruhito Harada et al.

MOLECULAR GENETICS AND METABOLISM (2011)

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Article Endocrinology & Metabolism

Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype

Agnieszka Jurecka et al.

MOLECULAR GENETICS AND METABOLISM (2011)

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Letter Genetics & Heredity

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

Flavio Faletra et al.

OPHTHALMIC GENETICS (2011)

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Article Pediatrics

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

Vassili Valayannopoulos et al.

PEDIATRIC RESEARCH (2011)

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Article Pediatrics

Variable disease progression after successful stem cell transplantation: Prospective follow-up investigations in eight patients with Hurler syndrome

Lorenz Grigull et al.

PEDIATRIC TRANSPLANTATION (2011)

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Article Pediatrics

Fatal Coronary Artery Disease in an Infant With Severe Mucopolysaccharidosis Type I

Leonie van den Broek et al.

PEDIATRICS (2011)

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Article Genetics & Heredity

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

Dirk J. Lefeber et al.

PLOS GENETICS (2011)

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Article Biochemistry & Molecular Biology

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel et al.

CELL (2010)

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Article Genetics & Heredity

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

J. van Reeuwijk et al.

CLINICAL GENETICS (2010)

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Article Pediatrics

Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: Proposal of a new syndrome

Reiko Shimizu et al.

CONGENITAL ANOMALIES (2010)

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Article Hematology

Thiamine-responsive megaloblastic anemia syndrome

Ali Bay et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY (2010)

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Article Anesthesiology

Undiagnosed Type IIIc Gaucher Disease in a Child With Aortic and Mitral Valve Calcification: Perioperative Complications After Cardiac Surgery

Samuel A. Mireles et al.

JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA (2010)

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Article Endocrinology & Metabolism

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I

Janet A. Thomas et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

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Article Endocrinology & Metabolism

Glycogen Storage Disease Type III with Hypoketosis

Maria Clemente et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2010)

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Article Gastroenterology & Hepatology

Systemic Progression of Type IV Glycogen Storage Disease After Liver Transplantation

Stephanie Willot et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2010)

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Letter Cardiac & Cardiovascular Systems

Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women

Amir Toib et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2010)

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Article Endocrinology & Metabolism

Japan Elaprase (R) Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

Torayuki Okuyama et al.

MOLECULAR GENETICS AND METABOLISM (2010)

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Article Medicine, General & Internal

Brief Report: Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis.

Ali-Reza Moslemi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

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Article Genetics & Heredity

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Mohammed Al-Owain et al.

ORPHANET JOURNAL OF RARE DISEASES (2010)

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Article Pediatrics

Enzyme-Replacement Therapy in a 5-Month-Old Boy With Attenuated Presymptomatic MPS I: 5-Year Follow-up

Orazio Gabrielli et al.

PEDIATRICS (2010)

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Article Cardiac & Cardiovascular Systems

Glucose-6-phosphate dehydrogenase deficiency and cardiac surgery

N. Dogra et al.

PERFUSION-UK (2010)

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Article Cell Biology

Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity

Chi-Fan Yang et al.

JOURNAL OF BIOMEDICAL SCIENCE (2010)

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Article Pediatrics

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series

Maurizio Scarpa et al.

JOURNAL OF PEDIATRIC REHABILITATION MEDICINE (2010)

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Article Genetics & Heredity

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Dirk J. Lefeber et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

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Article Cardiac & Cardiovascular Systems

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

Vlasta Fesslova et al.

CARDIOLOGY IN THE YOUNG (2009)

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Article Cardiac & Cardiovascular Systems

SGLT1 is a novel cardiac glucose transporter that is perturbed in disease states

Sanjay K. Banerjee et al.

CARDIOVASCULAR RESEARCH (2009)

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Article Cardiac & Cardiovascular Systems

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

Takuro Arimura et al.

CARDIOVASCULAR RESEARCH (2009)

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Article Cardiac & Cardiovascular Systems

Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement

N. Cindik et al.

CLINICAL CARDIOLOGY (2009)

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Letter Genetics & Heredity

Novel B3GALTL mutation in Peters-plus Syndrome

J. Dassie-Ajdid et al.

CLINICAL GENETICS (2009)

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Article Pediatrics

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin

Syed H. E. Zaidi et al.

EUROPEAN JOURNAL OF PEDIATRICS (2009)

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Article Pediatrics

Mucopolysaccharidosis VI: the Italian experience

Maurizio Scarpa et al.

EUROPEAN JOURNAL OF PEDIATRICS (2009)

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Article Obstetrics & Gynecology

Prenatal Cardiac Ultrasound Finding in Congenital Disorder of Glycosylation Type 1a

A. Malhotra et al.

FETAL DIAGNOSIS AND THERAPY (2009)

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Article Biochemistry & Molecular Biology

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

Wendy Vleugels et al.

GLYCOBIOLOGY (2009)

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Article Cardiac & Cardiovascular Systems

Mitral Valve Replacement and Hunter Syndrome: Case Report

Theophani Antoniou et al.

HEART SURGERY FORUM (2009)

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Article Biochemistry & Molecular Biology

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Renate Zeevaert et al.

HUMAN MOLECULAR GENETICS (2009)

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Article Medicine, General & Internal

Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy

Barry J. Maron et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2009)

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Article Anesthesiology

Perioperative Implications of Morquio Syndrome in a 31-Year-Old Woman Undergoing Aortic Valve Replacement

Paul S. Pagel et al.

JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA (2009)

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Article Endocrinology & Metabolism

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet

A. I. Dagli et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

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Article Endocrinology & Metabolism

Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy

S. Yano et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

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Article Endocrinology & Metabolism

Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

M. K. Thong et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

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Review Endocrinology & Metabolism

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

E. J. Footitt et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

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Article Endocrinology & Metabolism

Danon disease: Case report and detection of new mutation

G. Regelsberger et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

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Article Endocrinology & Metabolism

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene

C. Lamperti et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2009)

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Letter Genetics & Heredity

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

S. Romano et al.

JOURNAL OF MEDICAL GENETICS (2009)

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Article Genetics & Heredity

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

A. Mehta et al.

JOURNAL OF MEDICAL GENETICS (2009)

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Article Clinical Neurology

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients

H. Bourteel et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)

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Article Pediatrics

Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years

Nathalie Guffon et al.

JOURNAL OF PEDIATRICS (2009)

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Article Endocrinology & Metabolism

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

Jessie M. Cameron et al.

MOLECULAR GENETICS AND METABOLISM (2009)

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Article Clinical Neurology

CARDIAC PATHOLOGY EXCEEDS SKELETAL MUSCLE PATHOLOGY IN TWO CASES OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 21

Marta Margeta et al.

MUSCLE & NERVE (2009)

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Article Pathology

Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia

S. Khedhiri et al.

PATHOLOGIE BIOLOGIE (2009)

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Review Pharmacology & Pharmacy

Fabry disease

Raphael Schiffmann

PHARMACOLOGY & THERAPEUTICS (2009)

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Article Pediatrics

Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler

Saadet Mercimek-Mahmutoglu et al.

WORLD JOURNAL OF PEDIATRICS (2009)

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Review Endocrinology & Metabolism

Effects of thiamine and benfotiamine on intracellular glucose metabolism and relevance in the prevention of diabetic complications

Elena Beltramo et al.

ACTA DIABETOLOGICA (2008)

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Article Genetics & Heredity

Mutation Analysis of B3GALTL in Peters Plus Syndrome

Linda M. Reis et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

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Letter Genetics & Heredity

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

D. Coman et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

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Article Clinical Neurology

Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

Marie-Louise Sveen et al.

ARCHIVES OF NEUROLOGY (2008)

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Article Clinical Neurology

A case of galactosialidosis with a homozygous Q49R point mutation

Naoko Matsumoto et al.

BRAIN & DEVELOPMENT (2008)

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Article Cardiac & Cardiovascular Systems

Nodoventricular Accessory Pathways in PRKAG2-Dependent Familial Preexcitation Syndrome Reveal a Disorder in Cardiac Development

Hanno L. Tan et al.

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY (2008)

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Article Cardiac & Cardiovascular Systems

The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness

Attila Nemes et al.

HEART AND VESSELS (2008)

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HEART SURGERY FORUM (2008)

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Drug-eluting stents in a patient with favism: is the aspirin administration safe?

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A case of congenital glycogen storage disease type IV with a novel GBE1 mutation

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Coexistent manifestations of the Andersen-Tawil and Brugada syndromes

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Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity

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Glucose-6-phosphate dehydrogenase deficiency protects against coronary heart disease

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JOURNAL OF INHERITED METABOLIC DISEASE (2008)

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Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

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Clinical and genetic spectrum of Sanfilippo type c (MPS IIIC) disease in the Netherlands

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GM1 gangliosidosis:: Review of clinical, molecular, and therapeutic aspects

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Danon disease due to a novel splice mutation in the LAMP2 gene

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MUSCLE & NERVE (2008)

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Cardiac assessment of limb-girdle muscular dystrophy 2I patients:: An echography, Holter ECG and magnetic resonance imaging study

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Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

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Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations

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Allogeneic hematopoietic cell transplantation (HCT) in Hurler's syndrome using a reduced intensity preparative regimen

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Review Pediatrics

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Outlet type of interventricular septal defect in SanFilippo type-B syndrome

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Brief report:: Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

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Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

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Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Matthew R. G. Taylor et al.

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Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I

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Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the γ2-subunit of AMP-Activated protein kinase

Hasan O. Akman et al.

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New POMT2 mutations causing congenital muscular dystrophy:: Identification of a founder mutation

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Is Sanfilippo type B in your mind when you see adults with mental retardation and Behavioral problems?

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AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)

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Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I

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Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation

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Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig):: Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

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A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

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Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

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A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

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AMERICAN JOURNAL OF HUMAN GENETICS (2007)

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A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years

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Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

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LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy

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INTERNAL MEDICINE (2007)

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

Terumi Murakami et al.

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Cardiac involvement in limb-girdle muscular dystrophy 2I - Conventional cardiac diagnostic and cardiovascular magnetic resonance

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Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

Saskia A. J. Lesnik Oberstein et al.

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Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I

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AMERICAN JOURNAL OF CARDIOLOGY (2006)

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Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: Potential new anticancer target for curcumin

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Cardiac involvement in Fukuyama-type congenital muscular dystrophy

Toshio Nakanishi et al.

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High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 21 in Denmark

ML Sveen et al.

ANNALS OF NEUROLOGY (2006)

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Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy

E. J. Hingston et al.

INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY (2006)

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Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

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Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

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A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

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Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease

A Echaniz-Laguna et al.

MUSCLE & NERVE (2006)

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Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I

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Mucopolysaccharidosis I under enzyme replacement therapy with laronidase - A mortality case with autopsy report

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Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome

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Familial X-linked cardiomyopathy (Danon disease):: diagnostic confirmation by mutation analysis of the LAMP2gene

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CDG-IL:: An infant with a novel mutation in the ALG9 gene and additional phenotypic features

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Lysosomal metabolism of glycoproteins

B Winchester

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Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency

B Burwinkel et al.

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LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype

M Schwartz et al.

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Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation

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NEUROMUSCULAR DISORDERS (2005)

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Unusual presentation of congenital disorder of glycosylationtype 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema

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Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology

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ACTA NEUROPATHOLOGICA (2005)

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Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence

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Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome - Natural history

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Glycogen storage diseases presenting as hypertrophic cardiomyopathy

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The most common mutation in FKRP causing limb girdle muscular dystrophy type 21 (LGMD21) may have occurred only once and is present in hutterites and other populations

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HUMAN MUTATION (2005)

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Role of beta-galactoslidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G(M1)-gangliosidosis

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A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

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JOURNAL OF INHERITED METABOLIC DISEASE (2005)

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Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

LJM Spaapen et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2005)

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Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

WH Lagarde et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

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Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type IA, Ib, and Ic

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New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities.: Identification of a founder mutation in Tunisian families

N Louhichi et al.

NEUROGENETICS (2004)

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Article Cardiac & Cardiovascular Systems

Danon's disease as a cause of hypertrophic cardiomyopathy:: a systematic survey

P Charron et al.

HEART (2004)

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Cardiac and respiratory failure in limb-girdle muscular dystrophy 21

M Poppe et al.

ANNALS OF NEUROLOGY (2004)

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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

XH Wu et al.

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Usefulness of bone marrow transplantation in the Hurler syndrome

EA Braunlin et al.

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Review Biochemistry & Molecular Biology

O-mannosyl glycans: from yeast to novel associations with human disease

T Willer et al.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2003)

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Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome

A Lorber et al.

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Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome

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PEDIATRIC CARDIOLOGY (2003)

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Cardiomyopathy in congenital disorders of glycosylation

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CARDIOLOGY IN THE YOUNG (2003)

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Glucose-6-phosphate dehydrogenase modulates cytosolic redox status and contractile phenotype in adult cardiomyocytes

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CIRCULATION RESEARCH (2003)

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The phenotype of limb-girdle muscular dystrophy type 2I

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Phenotypic spectrum associated with mutations in the fukutin-related protein gene

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Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome

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JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2003)

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Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome

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BIOCHEMICAL SOCIETY TRANSACTIONS (2003)

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Characterization of Danon disease in a male patient and his affected mother

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Permanent transfemoral pacemaker implantation in a child with Maroteaux Lamy syndrome

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PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY (2002)

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Danon's disease (X-linked vacuolar cardiomyopathy and myopathy):: a case with a novel Lamp-2 gene mutation

L Lacoste-Collin et al.

NEUROMUSCULAR DISORDERS (2002)

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Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

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Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect

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PAEDIATRIC ANAESTHESIA (2002)

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Role of LAMP-2 in lysosome biogenesis and autophagy

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MOLECULAR BIOLOGY OF THE CELL (2002)

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Application of delayed extraction-matrix-assisted laser desorption ionization time-of-fight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients

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JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2002)

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Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)

M Takahashi et al.

ANNALS OF NEUROLOGY (2002)

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Article Cardiac & Cardiovascular Systems

Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid

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Cardiac involvement in infantile Sandhoff disease

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JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2002)

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Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy

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BLOOD CELLS MOLECULES AND DISEASES (2002)

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Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunter's syndrome

DI Kettles et al.

CARDIOVASCULAR PATHOLOGY (2002)

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Complete heart block during anesthetic management in a patient with mucopolysaccharidosis type VII

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ANESTHESIOLOGY (2001)

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PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8

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EMBO JOURNAL (2001)

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Article Biochemistry & Molecular Biology

Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy:: evidence for the central role of energy compromise in disease pathogenesis

E Blair et al.

HUMAN MOLECULAR GENETICS (2001)

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Article Genetics & Heredity

Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway

NM Verhoeven et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)

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Article History & Philosophy Of Science

Glycogen storage disease associated with left ventricular aneurysm in an elderly patient

G Toda et al.

JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION (2001)

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A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome

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BRITISH JOURNAL OF HAEMATOLOGY (2001)

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Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation

R George et al.

CLINICAL GENETICS (2001)

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Article Medicine, General & Internal

Enzyme-replacement therapy in mucopolysaccharidosis I.

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NEW ENGLAND JOURNAL OF MEDICINE (2001)

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A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules

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JOURNAL OF PEDIATRICS (2001)

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Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase - Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins

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Article Multidisciplinary Sciences

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

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Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)

S Bohlega et al.

NEUROLOGY (2000)

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A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

C Scharfe et al.

JOURNAL OF MEDICAL GENETICS (2000)

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