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Su Han Lum et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
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)
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)
A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene
Ayse Kartal et al.
METABOLIC BRAIN DISEASE (2017)
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II
Amal Al Teneiji et al.
MOLECULAR GENETICS AND METABOLISM (2017)
PGM1 deficiency: Substrate.use during exercise and effect of treatment with galactose
N. C. Voermans et al.
NEUROMUSCULAR DISORDERS (2017)
Mortality in patients with Sanfilippo syndrome
Christine Lavery et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
PIGO deficiency: palmoplantar keratoderma and novel mutations
Marie-Anne Morren et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Early disease progression of Hurler syndrome
Bridget T. Kiely et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Delivery of anesthesia for children with Mucopolysaccharidosis Type III (Sanfilippo syndrome): a review of 86 anesthetics
Marc A. Cohen et al.
PEDIATRIC ANESTHESIA (2017)
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation
Kun-Qi Yang et al.
SCIENTIFIC REPORTS (2017)
Genetics and genomics of dilated cardiomyopathy and systolic heart failure
Upasana Tayal et al.
GENOME MEDICINE (2017)
Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)
Molly Stapleton et al.
EXPERT OPINION ON ORPHAN DRUGS (2017)
Outcome of Combined Mitral and Aortic Valve Replacement in Adults With Mucopolysaccharidosis (the Hurler Syndrome)
Clark R. Robinson et al.
AMERICAN JOURNAL OF CARDIOLOGY (2017)
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up
Mahoko Furujo et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2017)
Limitations of galactose therapy in phosphoglucomutase 1 deficiency
Kristine Nolting et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2017)
ALG9-CDG: New clinical case and review of the literature
Kellie Davis et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2017)
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Mustafa Kilic et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome
Kara K. Reynolds et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Congenital disorders of glycosylation: The Saudi experience
Sarah Alsubhi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature
Yilmaz Kor et al.
CARDIOLOGY IN THE YOUNG (2017)
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
E. Ranza et al.
CLINICAL GENETICS (2017)
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome
Amy Knight Johnson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Early cardiac involvement in an infantile Sandhoff disease case with novel mutations
Hsiu-Fen Lee et al.
BRAIN & DEVELOPMENT (2017)
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Tim Van Damme et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2
Christine Fauth et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Genotype-Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/PIGN-Related Epilepsy
Leah Fleming et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Emma Tham et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation with Emphasis on Adult Onset Features
Patricia G. Wheeler et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era
Salvatore Torre et al.
ANNALS OF THORACIC SURGERY (2016)
Genetic defects in the hexosamine and sialic acid biosynthesis pathway
Anke P. Willems et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2016)
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
Florian Job et al.
BMC MEDICAL GENETICS (2016)
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment
Orazio Gabrielli et al.
BMC MEDICAL GENETICS (2016)
Amelioration of X-Linked Related Autophagy Failure in Danon Disease With DNA Methylation Inhibitor
Kwong-Man Ng et al.
CIRCULATION (2016)
Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings
J. F. Franco et al.
GENETICS AND MOLECULAR RESEARCH (2016)
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Anas M. Alazami et al.
HUMAN GENETICS (2016)
Gaucher's Disease with Cardiac Valve Calcification and Stenosis: A Rare Presentation due to Homozygous p.D409H Mutation in a North Indian Family
Pulkit Rastogi et al.
INDIAN JOURNAL OF PEDIATRICS (2016)
Fukutin gene mutations that cause left ventricular noncompaction
Eisuke Amiya et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2016)
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Fulya Taylan et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2016)
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Christiaan P. Sentner et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Adriana M. Montano et al.
JOURNAL OF MEDICAL GENETICS (2016)
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong et al.
JOURNAL OF PEDIATRICS (2016)
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I
Sarah Laraway et al.
JOURNAL OF PEDIATRICS (2016)
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres
Arunabha Ghosh et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
Hsiang-Yu Lin et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease
Marco Marino et al.
NEUROMUSCULAR DISORDERS (2016)
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene
Kazuma Sugie et al.
NEUROPATHOLOGY (2016)
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012
Hsiang-Yu Lin et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Dafne Dain Gandelman Horovitz et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
Renate Zeevaert et al.
ACTA CLINICA BELGICA (2016)
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
Christoph Kampmann et al.
PLOS ONE (2016)
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
Hsiang-Yu Lin et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2016)
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
S. T. Oestergaard et al.
NEUROLOGY-GENETICS (2016)
Aortic Root Dilatation in Mucopolysaccharidosis I-VII
Meena Bolourchi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2016)
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation
Beyhan Tuysuz et al.
JIMD REPORTS, VOL 26 (2016)
Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
Craig F. Munns et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Phosphoglucomutase-1 Deficiency: Intrafamilial Clinical Variability and Common Secondary Adrenal Insufficiency
Neta Loewenthal et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review
Natario L. Couser et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
Kelly L. Jones et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Transport of Sugars
Li-Qing Chen et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
Mieke Aldenhoven et al.
BLOOD (2015)
Expanding the phenotype of GMPPB mutations
Macarena Cabrera-Serrano et al.
BRAIN (2015)
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series
Isabelle Rousseau-Nepton et al.
CANADIAN MEDICAL ASSOCIATION JOURNAL (2015)
Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)
Thomas J. Gniadek et al.
CARDIOVASCULAR PATHOLOGY (2015)
Peters Plus Syndrome Mutations Disrupt a Noncanonical ER Quality-Control Mechanism
Deepika Vasudevan et al.
CURRENT BIOLOGY (2015)
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease
Ives T. Villamizar-Schiller et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2015)
Skeletal and cardiac muscle involvement in children with glycogen storage disease type III
Engy A. Mogahed et al.
EUROPEAN JOURNAL OF PEDIATRICS (2015)
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
Nicoletta Zoppi et al.
HUMAN MOLECULAR GENETICS (2015)
Early diagnosis of Danon disease: Flow cytometric detection of lysosome-associated membrane protein-2-negative leukocytes
Yoko Hashida et al.
JOURNAL OF CARDIOLOGY (2015)
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy
Lucia V. Schottlaender et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome
Jaime Dalmau Serra et al.
MEDICINA CLINICA (2015)
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)
Yew Sing Choy et al.
MOLECULAR GENETICS AND METABOLISM (2015)
First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient
Joyce E. Fox et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
Christina Lam et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Mercedes Serrano et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
The genotypic and phenotypic spectrum of PIGA deficiency
Maja Tarailo-Graovac et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
Nouriya A. Al-Sannaa et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Left Ventricular Diastolic Dysfunction in Type I Gaucher Disease: An Echo Doppler Study
Francesco Lo Iudice et al.
ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES (2015)
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients
Rossella Parini et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2015)
Sanfilippo syndrome: causes, consequences, and treatments
Anthony O. Fedele
APPLICATION OF CLINICAL GENETICS (2015)
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
Saskia N. van der Crabben et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload
Kathryn J. Swoboda et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
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
Julia E. von Oettingen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
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
Roberto Giugliani et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency
Edoardo Malfatti et al.
ANNALS OF NEUROLOGY (2014)
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings
Gabriela N. Leal et al.
CARDIOLOGY IN THE YOUNG (2014)
Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review
Elizabeth Braunlin et al.
CARDIOVASCULAR PATHOLOGY (2014)
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
E. Weh et al.
CLINICAL GENETICS (2014)
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy
Hugo R. Martinez et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia
P. D. Brady et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report
Mohammad Taghi Akbari et al.
EUROPEAN JOURNAL OF PEDIATRICS (2014)
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy
Christoph Kampmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center
Kariman Abelin Genevois et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
Filip Majer et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Christina Lampe et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis
Shan-Miao Lin et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
L. C. Tegtmeyer et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Glycogen storage disease type III: modified Atkins diet improves myopathy
Sebene Mayorandan et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years
Rosella Tomanin et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Asymptomatic Young Man with Danon Disease
Jiwon Kim et al.
TEXAS HEART INSTITUTE JOURNAL (2014)
The pentose phosphate pathway and cancer
Krushna C. Patra et al.
TRENDS IN BIOCHEMICAL SCIENCES (2014)
Pompe disease: from pathophysiology to therapy and back again
Jeong-A Lim et al.
FRONTIERS IN AGING NEUROSCIENCE (2014)
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Keren J. Carss et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene
Agnieszka Jurecka et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Impact of glucose-6-phosphate dehydrogenase deficiency on the pathophysiology of cardiovascular disease
Peter A. Hecker et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2013)
Polyglucosan Body Myopathy Caused by Defective Ubiquitin Ligase RBCK1
Johanna Nilsson et al.
ANNALS OF NEUROLOGY (2013)
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I
Kieren G. Hollingsworth et al.
EUROPEAN JOURNAL OF HEART FAILURE (2013)
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
Livia Kapusta et al.
HEART FAILURE REVIEWS (2013)
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)
Christian J. Hendriksz et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
Marion M. M. G. Brands et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
E. Braunlin et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience
Daniel H. Wiseman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
Wafaa Eyaid et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Malin Kvarnung et al.
JOURNAL OF MEDICAL GENETICS (2013)
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
Michelle T. Lieu et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?
Nicolai Preisler et al.
MOLECULAR GENETICS AND METABOLISM (2013)
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)
Up to five years experience with 11 mucopolysaccharidosis type VI patients
Marion M. M. G. Brands et al.
MOLECULAR GENETICS AND METABOLISM (2013)
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)
VITAMIN B6-RESPONSIVE EPILEPSY DUE TO INHERITED GPI DEFICIENCY
Ichiro Kuki et al.
NEUROLOGY (2013)
Limb-girdle muscular dystrophy type 21 is not rare in Taiwan
Wen-Chen Liang et al.
NEUROMUSCULAR DISORDERS (2013)
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia
Chiara Fiorillo et al.
NEUROMUSCULAR DISORDERS (2013)
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)
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)
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)
Sudden Death Associated With Danon Disease in Women
Daniela Miani et al.
AMERICAN JOURNAL OF CARDIOLOGY (2012)
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)
Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
Bobby G. Ng et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
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)
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)
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
Louise Devisme et al.
BRAIN (2012)
The first cardiac transplant experience in a patient with mucopolysaccharidosis
Henrique Grinberg et al.
CARDIOVASCULAR PATHOLOGY (2012)
Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy
Zhongwei Cheng et al.
EUROPEAN HEART JOURNAL (2012)
Genetics of inherited cardiomyopathy
Daniel Jacoby et al.
EUROPEAN HEART JOURNAL (2012)
Valve surgery in a mucopolysaccharidosis type I patient: early prosthetic valve endocarditis
Rodolfo V. Rocha et al.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY (2012)
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy
Luca Bello et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
SRD5A3-CDG: A patient with a novel mutation
C. S. Kasapkara et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)
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)
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)
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
Sharita Timal et al.
HUMAN MOLECULAR GENETICS (2012)
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)
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
Adam Golda et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2012)
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III
Amira Mili et al.
JOURNAL OF HUMAN GENETICS (2012)
Pregnancy and its management in women with GSD type III - a single centre experience
Radha Ramachandran et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
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)
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)
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)
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
Bertrand Boisson et al.
NATURE IMMUNOLOGY (2012)
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia
Sayuri Sukigara et al.
NEUROMUSCULAR DISORDERS (2012)
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
M. Pane et al.
NEUROMUSCULAR DISORDERS (2012)
Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia
Laura I. Rudaks et al.
PEDIATRIC CARDIOLOGY (2012)
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)
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)
Perioperative challenges in a patient of severe G6PD deficiency undergoing open heart surgery
Vivek Chowdhry et al.
ANNALS OF CARDIAC ANAESTHESIA (2012)
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)
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
Sevjidmaa Baasanjav et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Aortic stenosis in a patient with Hurler's syndrome after bone marrow transplantation
Naruhito Watanabe et al.
CARDIOLOGY IN THE YOUNG (2011)
Glucose metabolism and cardiac hypertrophy
Stephen C. Kolwicz et al.
CARDIOVASCULAR RESEARCH (2011)
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)
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)
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)
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)
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Gal Maydan et al.
JOURNAL OF MEDICAL GENETICS (2011)
Thiamine-Responsive Megaloblastic Anemia Syndrome With Atrial Standstill: A Case Report
Zehra Aycan et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2011)
Prevalence and Characterization of Cardiac Involvement in Hunter Syndrome
Christoph Kampmann et al.
JOURNAL OF PEDIATRICS (2011)
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)
Carotid intima-media thickness is increased in patients with mucopolysaccharidoses
Raymond Y. Wang et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI
Mahoko Furujo et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I
Haruhito Harada et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype
Agnieszka Jurecka et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL
Flavio Faletra et al.
OPHTHALMIC GENETICS (2011)
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)
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)
Fatal Coronary Artery Disease in an Infant With Severe Mucopolysaccharidosis Type I
Leonie van den Broek et al.
PEDIATRICS (2011)
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
Dirk J. Lefeber et al.
PLOS GENETICS (2011)
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Vincent Cantagrel et al.
CELL (2010)
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)
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)
Thiamine-responsive megaloblastic anemia syndrome
Ali Bay et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2010)
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)
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
Janet A. Thomas et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Glycogen Storage Disease Type III with Hypoketosis
Maria Clemente et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2010)
Systemic Progression of Type IV Glycogen Storage Disease After Liver Transplantation
Stephanie Willot et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2010)
Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women
Amir Toib et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2010)
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)
Brief Report: Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis.
Ali-Reza Moslemi et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
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)
Enzyme-Replacement Therapy in a 5-Month-Old Boy With Attenuated Presymptomatic MPS I: 5-Year Follow-up
Orazio Gabrielli et al.
PEDIATRICS (2010)
Glucose-6-phosphate dehydrogenase deficiency and cardiac surgery
N. Dogra et al.
PERFUSION-UK (2010)
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)
Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series
Maurizio Scarpa et al.
JOURNAL OF PEDIATRIC REHABILITATION MEDICINE (2010)
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)
The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses
Vlasta Fesslova et al.
CARDIOLOGY IN THE YOUNG (2009)
SGLT1 is a novel cardiac glucose transporter that is perturbed in disease states
Sanjay K. Banerjee et al.
CARDIOVASCULAR RESEARCH (2009)
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy
Takuro Arimura et al.
CARDIOVASCULAR RESEARCH (2009)
Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement
N. Cindik et al.
CLINICAL CARDIOLOGY (2009)
Novel B3GALTL mutation in Peters-plus Syndrome
J. Dassie-Ajdid et al.
CLINICAL GENETICS (2009)
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)
Mucopolysaccharidosis VI: the Italian experience
Maurizio Scarpa et al.
EUROPEAN JOURNAL OF PEDIATRICS (2009)
Prenatal Cardiac Ultrasound Finding in Congenital Disorder of Glycosylation Type 1a
A. Malhotra et al.
FETAL DIAGNOSIS AND THERAPY (2009)
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient
Wendy Vleugels et al.
GLYCOBIOLOGY (2009)
Mitral Valve Replacement and Hunter Syndrome: Case Report
Theophani Antoniou et al.
HEART SURGERY FORUM (2009)
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1
Renate Zeevaert et al.
HUMAN MOLECULAR GENETICS (2009)
Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy
Barry J. Maron et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2009)
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)
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet
A. I. Dagli et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
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)
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)
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)
Danon disease: Case report and detection of new mutation
G. Regelsberger et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
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)
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S. Romano et al.
JOURNAL OF MEDICAL GENETICS (2009)
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)
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)
Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years
Nathalie Guffon et al.
JOURNAL OF PEDIATRICS (2009)
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)
CARDIAC PATHOLOGY EXCEEDS SKELETAL MUSCLE PATHOLOGY IN TWO CASES OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 21
Marta Margeta et al.
MUSCLE & NERVE (2009)
Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia
S. Khedhiri et al.
PATHOLOGIE BIOLOGIE (2009)
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)
Effects of thiamine and benfotiamine on intracellular glucose metabolism and relevance in the prevention of diabetic complications
Elena Beltramo et al.
ACTA DIABETOLOGICA (2008)
Mutation Analysis of B3GALTL in Peters Plus Syndrome
Linda M. Reis et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
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)
Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy
Marie-Louise Sveen et al.
ARCHIVES OF NEUROLOGY (2008)
A case of galactosialidosis with a homozygous Q49R point mutation
Naoko Matsumoto et al.
BRAIN & DEVELOPMENT (2008)
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)
The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness
Attila Nemes et al.
HEART AND VESSELS (2008)
Aortic valve replacement in a patient with Morquio syndrome
Francesco Nicolini et al.
HEART SURGERY FORUM (2008)
Drug-eluting stents in a patient with favism: is the aspirin administration safe?
Stefano Rigattieri et al.
JOURNAL OF CARDIOVASCULAR MEDICINE (2008)
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation
G. Praveen Raju et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Coexistent manifestations of the Andersen-Tawil and Brugada syndromes
Adrian H. Shandling et al.
JOURNAL OF ELECTROCARDIOLOGY (2008)
Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity
T. F. Eminoglu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Glucose-6-phosphate dehydrogenase deficiency protects against coronary heart disease
L. Meloni et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia
Gerben Truin et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Clinical and genetic spectrum of Sanfilippo type c (MPS IIIC) disease in the Netherlands
G. J. G. Ruijter et al.
MOLECULAR GENETICS AND METABOLISM (2008)
GM1 gangliosidosis:: Review of clinical, molecular, and therapeutic aspects
Nicola Brunetti-Pierri et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Danon disease due to a novel splice mutation in the LAMP2 gene
Amelie Nadeau et al.
MUSCLE & NERVE (2008)
Cardiac assessment of limb-girdle muscular dystrophy 2I patients:: An echography, Holter ECG and magnetic resonance imaging study
Karim Wahbi et al.
NEUROMUSCULAR DISORDERS (2008)
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy
Adele D'Amico et al.
NEUROMUSCULAR DISORDERS (2008)
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations
M. Kefi et al.
NEUROPEDIATRICS (2008)
Metabolic reserve of the heart: The forgotten link between contraction and coronary flow
Christos Kassiotis et al.
PROGRESS IN CARDIOVASCULAR DISEASES (2008)
Allogeneic hematopoietic cell transplantation (HCT) in Hurler's syndrome using a reduced intensity preparative regimen
M. D. Hansen et al.
BONE MARROW TRANSPLANTATION (2008)
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome
R. P. Cotarelo et al.
CLINICAL GENETICS (2008)
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J. Edmond Wraith et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Outlet type of interventricular septal defect in SanFilippo type-B syndrome
S. Kourouklis et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2007)
Brief report:: Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
Gittan Kollberg et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening
S. Vermeer et al.
JOURNAL OF NEUROLOGY (2007)
Danon disease presenting with dilated cardiomyopathy and a complex phenotype
Matthew R. G. Taylor et al.
JOURNAL OF HUMAN GENETICS (2007)
Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I
O. I. I. Soliman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
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.
PEDIATRIC RESEARCH (2007)
New POMT2 mutations causing congenital muscular dystrophy:: Identification of a founder mutation
A. Yanagisawa et al.
NEUROLOGY (2007)
Is Sanfilippo type B in your mind when you see adults with mental retardation and Behavioral problems?
Ute Moog et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I
Visnja Tokic et al.
EUROPEAN JOURNAL OF PEDIATRICS (2007)
Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation
Gavin Y. Oudit et al.
CARDIOVASCULAR PATHOLOGY (2007)
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig):: Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality
Christian Kranz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
Eva Morava et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J. M. van de Kamp et al.
JOURNAL OF MEDICAL GENETICS (2007)
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
Christian Kranz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
Monica Sifuentes et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
Els Schollen et al.
MOLECULAR GENETICS AND METABOLISM (2007)
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy
Seiichiro Sugimoto et al.
INTERNAL MEDICINE (2007)
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
Terumi Murakami et al.
ANNALS OF NEUROLOGY (2006)
Cardiac involvement in limb-girdle muscular dystrophy 2I - Conventional cardiac diagnostic and cardiovascular magnetic resonance
C. Gaul et al.
JOURNAL OF NEUROLOGY (2006)
Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
Saskia A. J. Lesnik Oberstein et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I
Elizabeth A. Braunlin et al.
AMERICAN JOURNAL OF CARDIOLOGY (2006)
Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: Potential new anticancer target for curcumin
Anissa Belkaid et al.
FEBS LETTERS (2006)
Cardiac involvement in Fukuyama-type congenital muscular dystrophy
Toshio Nakanishi et al.
PEDIATRICS (2006)
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 21 in Denmark
ML Sveen et al.
ANNALS OF NEUROLOGY (2006)
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)
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease
M Fanin et al.
AMERICAN JOURNAL OF PATHOLOGY (2006)
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
PJ Coucke et al.
NATURE GENETICS (2006)
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
F Foulquier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis
P Laforêt et al.
NEUROMUSCULAR DISORDERS (2006)
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)
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I
CA Boito et al.
ARCHIVES OF NEUROLOGY (2005)
Mucopolysaccharidosis I under enzyme replacement therapy with laronidase - A mortality case with autopsy report
HY Lin et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome
K Bhattacharya et al.
ANNALS OF THORACIC SURGERY (2005)
Familial X-linked cardiomyopathy (Danon disease):: diagnostic confirmation by mutation analysis of the LAMP2gene
C Balmer et al.
EUROPEAN JOURNAL OF PEDIATRICS (2005)
CDG-IL:: An infant with a novel mutation in the ALG9 gene and additional phenotypic features
M Weinstein et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Lysosomal metabolism of glycoproteins
B Winchester
GLYCOBIOLOGY (2005)
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.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
M Schwartz et al.
NEUROLOGY (2005)
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
T Müller et al.
NEUROMUSCULAR DISORDERS (2005)
Unusual presentation of congenital disorder of glycosylationtype 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
V Noelle et al.
EUROPEAN JOURNAL OF PEDIATRICS (2005)
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
E Aronica et al.
ACTA NEUROPATHOLOGICA (2005)
Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence
BB Das et al.
PEDIATRIC TRANSPLANTATION (2005)
Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome - Natural history
RT Murphy et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2005)
Glycogen storage diseases presenting as hypertrophic cardiomyopathy
M Arad et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
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
P Frosk et al.
HUMAN MUTATION (2005)
Role of beta-galactoslidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G(M1)-gangliosidosis
A Caciotti et al.
HUMAN MUTATION (2005)
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
NM Verhoeven et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
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)
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)
Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type IA, Ib, and Ic
G Damen et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2004)
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)
Danon's disease as a cause of hypertrophic cardiomyopathy:: a systematic survey
P Charron et al.
HEART (2004)
Cardiac and respiratory failure in limb-girdle muscular dystrophy 21
M Poppe et al.
ANNALS OF NEUROLOGY (2004)
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
XH Wu et al.
NATURE MEDICINE (2004)
Usefulness of bone marrow transplantation in the Hurler syndrome
EA Braunlin et al.
AMERICAN JOURNAL OF CARDIOLOGY (2003)
O-mannosyl glycans: from yeast to novel associations with human disease
T Willer et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2003)
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome
A Lorber et al.
PEDIATRIC CARDIOLOGY (2003)
Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome
J Kusa et al.
PEDIATRIC CARDIOLOGY (2003)
Cardiomyopathy in congenital disorders of glycosylation
J Gehrmann et al.
CARDIOLOGY IN THE YOUNG (2003)
Glucose-6-phosphate dehydrogenase modulates cytosolic redox status and contractile phenotype in adult cardiomyocytes
M Jain et al.
CIRCULATION RESEARCH (2003)
The phenotype of limb-girdle muscular dystrophy type 2I
M Poppe et al.
NEUROLOGY (2003)
Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2
K Yamanaka et al.
NATURE CELL BIOLOGY (2003)
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
E Mercuri et al.
ANNALS OF NEUROLOGY (2003)
Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome
CJ Vaughan et al.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY (2003)
Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome
MH Gollob
BIOCHEMICAL SOCIETY TRANSACTIONS (2003)
Characterization of Danon disease in a male patient and his affected mother
K Sugie et al.
NEUROMUSCULAR DISORDERS (2003)
Permanent transfemoral pacemaker implantation in a child with Maroteaux Lamy syndrome
E Dilber et al.
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY (2002)
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)
Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia
T Marquardt et al.
EUROPEAN JOURNAL OF PEDIATRICS (2002)
Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect
D Mohart et al.
PAEDIATRIC ANAESTHESIA (2002)
Role of LAMP-2 in lysosome biogenesis and autophagy
EL Eskelinen et al.
MOLECULAR BIOLOGY OF THE CELL (2002)
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
T Fujiwaki et al.
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2002)
Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease)
M Takahashi et al.
ANNALS OF NEUROLOGY (2002)
Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid
BJ Feldman et al.
PEDIATRIC CARDIOLOGY (2002)
Cardiac involvement in infantile Sandhoff disease
P Venugopalan et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2002)
Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy
H Michelakakis et al.
BLOOD CELLS MOLECULES AND DISEASES (2002)
Left ventricular aneurysm, aortic valve disease and coronary narrowing in a patient with Hunter's syndrome
DI Kettles et al.
CARDIOVASCULAR PATHOLOGY (2002)
Complete heart block during anesthetic management in a patient with mucopolysaccharidosis type VII
Y Toda et al.
ANESTHESIOLOGY (2001)
PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8
K Ohishi et al.
EMBO JOURNAL (2001)
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)
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)
Glycogen storage disease associated with left ventricular aneurysm in an elderly patient
G Toda et al.
JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION (2001)
A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome
S Gritli et al.
BRITISH JOURNAL OF HAEMATOLOGY (2001)
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)
Enzyme-replacement therapy in mucopolysaccharidosis I.
ED Kakkis et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules
K Inui et al.
JOURNAL OF PEDIATRICS (2001)
Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase - Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins
BT Ning et al.
EUROPEAN JOURNAL OF BIOCHEMISTRY (2000)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
I Nishino et al.
NATURE (2000)
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)
S Bohlega et al.
NEUROLOGY (2000)
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)