☆ 4.6 Review

Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review

BIOLOGY-BASEL (2022)

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Review Endocrinology & Metabolism

Interpreting global trends in type 2 diabetes complications and mortality

Mohammed K. Ali et al.

Summary: International trends in traditional diabetes complications and mortality rates are mainly studied in a few high-income countries, where cardiovascular complication rates and all-cause mortality in diabetes patients are declining, while some low- and middle-income countries show the opposite trend. Variations in case definitions and diagnostic approaches across countries significantly impact the interpretation of research data. Standardization in data collection, case definitions, analytical methods, and reporting guidelines is recommended to better document trends in type 2 diabetes complications and mortality rates globally.

DIABETOLOGIA (2022)

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Article Biochemistry & Molecular Biology

Unexpected gene activation following CRISPR-Cas9-mediated genome editing

Anna G. Manjon et al.

Summary: CRISPR has revolutionized molecular biology as a genome editing tool. However, lentiviral-based sgRNA vectors may integrate into the endogenous genomic target location, leading to undesired activation of the target gene and potential drug resistance. Further research is needed to understand and address this unreported CRISPR/Cas9 on-target effect.

EMBO REPORTS (2022)

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Article Endocrinology & Metabolism

SARS-CoV-2 Seroprevalence in Individuals With Type 1 and Type 2 Diabetes Compared With Controls

Alpesh Goyal et al.

Summary: Through an analytical cross-sectional study design, the study found an association between diabetes patients and susceptibility to SARS-CoV-2, without difference based on diabetes type. Additionally, low education status and overweight/obesity were also associated with SARS-CoV-2 seropositivity.

ENDOCRINE PRACTICE (2022)

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Article Genetics & Heredity

Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria

Xiaohua Jin et al.

Summary: The study identified deep intronic variants in the PAH gene that may impact the genetic diagnosis of PKU, with in silico predictions suggesting potential splice site alterations. Furthermore, experimental analysis confirmed the effects of these variants on pseudo-exon inclusion in PAH mRNA, enhancing current understanding of PAH genotypes and the molecular mechanisms underlying PKU.

HUMAN MUTATION (2022)

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Article Clinical Neurology

Hospitalization Burden and Incidence of Krabbe Disease

Gabrielle Ghabash et al.

Summary: The study aimed to understand the healthcare burden and incidence of Krabbe disease (Krabbe), finding that Krabbe patients had significant healthcare costs. The estimated prevalence and birth incidence were similar to rates observed from newborn screening.

JOURNAL OF CHILD NEUROLOGY (2022)

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Article Pharmacology & Pharmacy

Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador

Karla Garay-Garcia et al.

Summary: This report presents three cases of severe hypertriglyceridemia in adult patients from Quito, Ecuador, all of which were associated with LMF1 gene variants. Two patients presented with acute pancreatitis, while one patient was asymptomatic but had significantly elevated triglyceride levels. The findings suggest that LMF1 gene may be a common cause of severe hypertriglyceridemia in Latin-American patients.

JOURNAL OF CLINICAL LIPIDOLOGY (2022)

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Article Endocrinology & Metabolism

AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts

Megan L. Brophy et al.

Summary: Classic galactosemia is a rare genetic disorder caused by gene mutations. A study has shown that gene therapy using AAV can restore enzyme activity and prevent cell stress and injury. Furthermore, it was found that AAV-mediated GALT expression can restore cellular homeostasis factors in CG patients and demonstrate proof-of-concept restoration of galactose metabolism in a mouse model.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

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Article Endocrinology & Metabolism

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia

Jennifer M. I. Daenzer et al.

Summary: The study demonstrates the promising metabolic and phenotypic efficacy of neonatal GALT gene replacement in a rat model of classic galactosemia. Treatment with AAV9-hGALT dramatically improves galactose metabolites in plasma, liver, and brain of treated rats. The study also suggests that limiting galactose intake after weaning can continue to provide metabolic rescue for GALT-null rats into adulthood.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

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Article Medicine, Research & Experimental

Antibodies to watch in 2022

Helene Kaplon et al.

Summary: This article provides a summary of key events in the development of commercial antibody therapeutics in 2021 and a glimpse into potential events in 2022. The regulatory review process for antibody therapeutics targeting the SARS-CoV-2 coronavirus has been expedited, leading to emergency use authorizations and full approvals in multiple countries. Additionally, the late-stage commercial clinical pipeline for antibody therapeutics, excluding those for COVID-19, has seen significant growth over the past year.

MABS (2022)

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Article Genetics & Heredity

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

Salvatore Iacono et al.

Summary: We report a case of adult-onset Krabbe disease in a 47-year-old man with two rare GALC mutations. The co-occurrence of these mutations in a Krabbe disease patient is novel. We reviewed the current literature on compound heterozygous mutations in adult-onset Krabbe disease and their phenotypic variability.

NEUROGENETICS (2022)

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Review Behavioral Sciences

ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications

Selina Cannon Homaei et al.

Summary: Neurometabolic diseases (NMDs), caused by genetic abnormalities, can interfere with the normal development and function of the nervous system. Many NMDs are associated with neuropsychiatric manifestations, including symptoms of ADHD, and share similar neurochemical mechanisms with ADHD. Understanding these relationships can have important therapeutic implications.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2022)

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Article Pediatrics

Mucopolysaccharidosis patients have reduced functional capacity

Bianca M. C. Dias et al.

Summary: This study evaluated the functional capacity of MPS patients compared to healthy controls, finding that MPS patients performed significantly worse on the SST and ISWT tests.

PEDIATRIC PULMONOLOGY (2022)

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Review Pharmacology & Pharmacy

CRISPR-based therapeutics: current challenges and future applications

Ashley E. Modell et al.

Summary: The discovery of CRISPR-Cas systems has revolutionized therapeutic development and treatment approaches, with the ability to rapidly identify drug mechanisms, advance ex vivo therapies, and address limitations in in vivo treatments.

TRENDS IN PHARMACOLOGICAL SCIENCES (2022)

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Review Endocrinology & Metabolism

Applying implementation science to improve care for familial hypercholesterolemia

Laney K. Jones et al.

Summary: This review discusses implementation strategies for improving care of individuals with familial hypercholesteremia (FH) and compares them with expert-recommended change strategies. The study finds that only a few studies have used implementation science theories or frameworks, and only a couple of studies explicitly address health disparities or equity.

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2022)

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Article Gastroenterology & Hepatology

Domino liver transplants: where do we stand after a quarter-century? A US national analysis

M. B. M. Doyle et al.

Summary: This study assessed the national profile of Domino Liver Transplantation (DLT) in the United States and evaluated the survival outcomes. The study found that despite excellent long-term survival outcomes, DLT makes up a very small percentage of the liver donor pool.

HPB (2022)

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Article Medicine, General & Internal

Effectiveness of a Novel ω-3 Krill Oil Agent in Patients With Severe Hypertriglyceridemia A Randomized Clinical Trial

Dariush Mozaffarian et al.

Summary: This study found that omega-3-PL/FFA, a novel krill oil-derived omega-3 formulation, can reduce TG levels and is safe and well tolerated in patients with severe hypertriglyceridemia.

JAMA NETWORK OPEN (2022)

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Article Biochemistry & Molecular Biology

Atypical Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant

Francesco Nicita et al.

Summary: We present two siblings with atypical clinical and neuroimaging phenotypes in Krabbe disease, who were found to carry biallelic loss-of-function GALC variants. This unique description expands the clinical and molecular spectra of this rare disorder.

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

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Letter Dermatology

Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female

Haru Suzuki et al.

JOURNAL OF DERMATOLOGY (2022)

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Article Endocrinology & Metabolism

An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey

Fatma Nihal Ozturk et al.

Summary: This study identified the frequency of PAH gene variants in the Turkish population with PKU and found nine novel variants. Identification of the PAH gene variant spectrum is important for early diagnosis, clinical follow-up, treatment, and genetic counseling.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2022)

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Article Endocrinology & Metabolism

A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree

Han Kang et al.

Summary: This study identified a mutation in the SMPD1 gene that caused a decrease in ASM activity and found that this gene is not imprinted in the family.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2022)

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Article Clinical Neurology

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report

Zhengqing He et al.

Summary: This study analyzed the clinical, imaging, and genetic characteristics of a patient diagnosed with adult-onset Krabbe disease. The patient presented spastic paraplegia, with specific MRI imaging features and two identified mutations in the GALC gene, including a novel mutation.

NEUROCASE (2022)

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Article Nutrition & Dietetics

The Effect of Dietary Interventions on Hypertriglyceridemia: From Public Health to Molecular Nutrition Evidence

Karla Paulina Luna-Castillo et al.

Summary: Approximately 25-50% of the global population has elevated serum triglyceride levels, which are associated with increased risks of atherogenic particles, non-alcoholic fatty liver disease, and pancreatitis. High serum triglyceride levels are also linked to cardiovascular disease, the leading cause of death in Western countries. The causes of hypertriglyceridemia are multifactorial, with primary causes including genetic disorders, and secondary causes including lifestyle factors, medical conditions, and medication. Dietary intervention is recommended as the initial step in treating and preventing lipid alterations, with macronutrient distribution changes such as fat or protein, low-carbohydrate diets, and caloric restriction proving to be effective strategies in reducing triglyceride levels. The Mediterranean diet has shown consistent evidence of efficacy in treating hypertriglyceridemia, while omega-3 supplements have been extensively studied and shown effective results in reducing triglyceride levels.

NUTRIENTS (2022)

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Article Genetics & Heredity

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman

Khalid Al-Waili et al.

Summary: This study identified novel genetic mutations in F-HTG patients of Arab ancestry in Oman, suggesting a founder effect and genetic uniqueness in this population. These findings highlight the importance of further analysis and counseling for F-HTG patients in the Middle East, particularly in populations with high rates of consanguinity.

FRONTIERS IN GENETICS (2022)

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Article Genetics & Heredity

A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia

Danxia Guo et al.

Summary: This study identified disease-causing gene mutations in a Chinese family with hypertriglyceridemia and assessed their functional significance in vitro, revealing that the severe hypertriglyceridemia in the patient was of digenic origin caused by double heterozygosity for LMF1 and LPL mutations.

FRONTIERS IN GENETICS (2022)

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Article Health Care Sciences & Services

Mapping global research trends in diabetes and COVID-19 outbreak in the past year: a bibliometric analysis

Xiaofeng Lin et al.

Summary: By using bibliometric analysis, this research mapped the global research trends in COVID-19 and diabetes. China and the United States led in terms of both document numbers and citations, with keywords mainly focusing on risk factors, ACE2 receptor and cytokine storm, as well as clinical characteristics and epidemiology.

ANNALS OF PALLIATIVE MEDICINE (2022)

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Article Engineering, Biomedical

Targeted core-shell nanoparticles for precise CTCF gene insert in treatment of metastatic breast cancer

Jialun Duan et al.

Summary: This study developed a targeted core-shell nano-particles carrying dual plasmids for precise gene insertion to treat metastatic breast cancer, and found the associated inhibitory mechanism.

BIOACTIVE MATERIALS (2022)

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Review Cardiac & Cardiovascular Systems

Lessons learned from the evinacumab trials in the treatment of homozygous familial hypercholesterolemia

Etienne Khoury et al.

Summary: Homozygous familial hypercholesterolemia (HoFH) is a life-threatening rare genetic disorder characterized by extremely high levels of "bad" cholesterol, leading to early-onset atherosclerotic cardiovascular disease. Conventional lipid-lowering therapies have limited efficacy in reaching the recommended cholesterol levels in HoFH patients. However, agents that act independently of LDL receptors, such as ANGPTL3 inhibitors, offer a promising approach. Evinacumab, a monoclonal antibody targeting ANGPTL3, was approved in the USA in 2021 for the treatment of HoFH. It has demonstrated both safety and strong LDL-lowering efficacy. This review provides insights into the development of evinacumab, lessons learned from clinical trials, and the challenges related to accessibility.

FUTURE CARDIOLOGY (2022)

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Review Endocrinology & Metabolism

Management of Mild-to-Moderate Hypertriglyceridemia

Vishnu Priya Pulipati et al.

Summary: This review examines the current management and future therapies for hypertriglyceridemia (HTG), a highly prevalent and rising condition globally. The findings suggest that clinicians should assess and treat secondary causes of mild-to-moderate HTG and consider statins as the first-line treatment. Recent clinical trials also indicate that adding icosapent ethyl to statin therapy may further reduce the risk of atherosclerotic cardiovascular disease in patients with moderate HTG.

ENDOCRINE PRACTICE (2022)

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Article Biochemistry & Molecular Biology

Human CIDEC transgene improves lipid metabolism and protects against high-fat diet-induced glucose intolerance in mice

Abhishek Gupta et al.

Summary: This study identifies CIDEC as a key regulator of adipose lipid metabolism and whole-body glucose homeostasis in obese humans. Transgenic mouse models show that CIDEC expression protects against high-fat diet-induced glucose intolerance and regulates lipid metabolism. Treatment with recombinant CIDEC decreases triglyceride breakdown in human adipose tissue.

JOURNAL OF BIOLOGICAL CHEMISTRY (2022)

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Article Multidisciplinary Sciences

Analysis of Wilson disease mutations in copper binding domain of ATP7B gene

Bushra Gul et al.

Summary: This study aims to describe the genetic and clinical characteristics of Wilson's disease in the Pakistani population. The study identified clinical heterogeneity, including reduced serum ceruloplasmin, signs of chronic liver damage, and raised urinary copper excretion. Several variants in the ATP7B gene were found, including a reported variation and some putative novel variants.

PLOS ONE (2022)

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Article Endocrinology & Metabolism

Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia

Shuping Wang et al.

Summary: This study identified two novel compound heterozygous variants of LPL, which resulted in defects in the expression and function of LPL and caused type I hyperlipoproteinemia.

FRONTIERS IN ENDOCRINOLOGY (2022)

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Review Endocrinology & Metabolism

New, Novel Lipid-Lowering Agents for Reducing Cardiovascular Risk: Beyond Statins

Kyuho Kim et al.

Summary: In addition to statins, there are many novel lipid-lowering agents in development, such as Inclisiran and Bempedoic acid, which have unique mechanisms of action for lowering LDL-C levels and improving associated dyslipidemias.

DIABETES & METABOLISM JOURNAL (2022)

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Review Biochemistry & Molecular Biology

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

Mariangela Succoio et al.

Summary: Galactosemia is a genetic disorder that can be diagnosed at birth through newborn screening. There is currently no cure, and treatment involves managing the condition through dietary control.

BIOMOLECULES (2022)

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Article Endocrinology & Metabolism

Hypertriglyceridemia

Alan Chait

Summary: Hypertriglyceridemia can be genetic or secondary, and severe elevation increases the risk of cardiovascular disease and acute pancreatitis. Prevention involves managing treatable cardiovascular risk factors and using statin medication. Triglyceride-induced pancreatitis can be prevented by keeping triglyceride levels below 500 mg/dL.

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2022)

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Article Physiology

Multi-omic Approaches to Identify Genetic Factors in Metabolic Syndrome

Karen C. Clark et al.

Summary: Metabolic syndrome (MetS) is a highly heritable disease with multiple component features that synergistically increase the risk of stroke, cardiovascular disease, and certain cancers. While some genetic risk factors have been identified, additional novel loci are yet to be discovered. Integrating genomics data provides insights into the pathways and mechanisms of complex diseases and holds promise for novel treatments.

COMPREHENSIVE PHYSIOLOGY (2022)

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Article Public, Environmental & Occupational Health

Systematic Analysis of the Global, Regional and National Burden of Cardiovascular Diseases from 1990 to 2017

Zhenkun Wang et al.

Summary: This study investigates the temporal and regional trends, as well as risk factors, of cardiovascular diseases (CVDs) worldwide from 1990 to 2017. The study finds that the number of deaths from CVDs has increased over time, but the age-standardized mortality rate has decreased. Metabolic risks and behavioral factors are identified as the main contributors to CVDs.

JOURNAL OF EPIDEMIOLOGY AND GLOBAL HEALTH (2022)

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Article Gastroenterology & Hepatology

Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease

Marlene Panzer et al.

Summary: This study evaluated the prevalence and disease mechanism of the synonymous variant c.2292C>T (p.Phe764=) in Wilson disease. It was found that this variant has a higher allele frequency in Wilson disease patients and causes abnormal mRNA processing of ATP7B transcripts.

HEPATOLOGY COMMUNICATIONS (2022)

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Article Biochemistry & Molecular Biology

Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease

Thirumal D. Kumar et al.

Summary: This study utilized computational pipelines to analyze missense mutations in the GALC gene, identifying R396L and R396W as the most deleterious and destabilizing to GALC. The impact of these mutations on the chaperone alpha lobeline was validated using molecular docking, showing R396W to have minimal binding affinity compared to R396L and native GALC.

JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS (2021)

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Article Clinical Neurology

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

Yilun Tao et al.

Summary: This study systematically investigated the mutational and phenotypic spectrum of PAH in Shanxi province, China, revealing a high prevalence of mild hyperphenylalaninemia (MHP) in the region and specific variants associated with certain phenotypes.

BRAIN & DEVELOPMENT (2021)

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Article Genetics & Heredity

Galactokinase deficiency: lessons from the GalNet registry

M. Estela Rubio-Gozalbo et al.

Summary: GALK1 deficiency can lead to neonatal elevation of transaminases, bleeding diathesis, and encephalopathy in addition to cataract. Most patients show enzyme activities <= 1% at diagnosis, with a variety of gene mutations, mainly NM_000154.1:c.82C>A (p.Pro28Thr). Thirty-five patients were diagnosed through newborn screening, which was found to be beneficial.

GENETICS IN MEDICINE (2021)

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Article Cell & Tissue Engineering

Implanted pluripotent stem-cell-derived pancreatic endoderm cells secrete glucose-responsive C-peptide in patients with type 1 diabetes

Adam Ramzy et al.

Summary: This study evaluates the safety and efficacy of implanting pancreatic endoderm cells for treating type 1 diabetes, showing increased C-peptide levels and mature beta cell phenotype in grafts after implantation. The findings provide evidence of meal-regulated insulin secretion by differentiated stem cells in patients.

CELL STEM CELL (2021)

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Review Medicine, Research & Experimental

A mini-review on the effects of COVID-19 on younger individuals

Madhumitha Manivannan et al.

Summary: The COVID-19 pandemic has significantly impacted the world, with young individuals being less affected by the disease but disproportionately impacted by strict lockdown measures.

EXPERIMENTAL BIOLOGY AND MEDICINE (2021)

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Review Peripheral Vascular Disease

Monoclonal Antibodies in the Management of Familial Hypercholesterolemia: Focus on PCSK9 and ANGPTL3 Inhibitors

Angela Pirillo et al.

Summary: Familial hypercholesterolemia (FH) is a monogenic disorder characterized by high LDL-C levels, usually due to mutations in the LDLR gene. Combination therapy is recommended to lower LDL-C levels, with monoclonal antibodies targeting PCSK9 and ANGPTL3 showing promise in FH patients.

CURRENT ATHEROSCLEROSIS REPORTS (2021)

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Article Clinical Neurology

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

Sanjiban Chakrabarty et al.

Summary: The study conducted comprehensive clinical, pathological, biochemical, and genetic analysis on 11 patients with MELAS syndrome, revealing the classical pathogenic mutation m.3243A > G and mutations in nuclear genes associated with MELAS clinical manifestations.

JOURNAL OF NEUROLOGY (2021)

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Article Cardiac & Cardiovascular Systems

LDL cholesterol target achievement in heterozygous familial hypercholesterolemia patients according to 2019 ESC/EAS lipid guidelines: Implications for newer lipid-lowering treatments

Christos V. Rizos et al.

Summary: The 2019 European guidelines recommend more aggressive LDL-C targets for FH patients, but current lipid-lowering treatment is often inadequate. Analysis of the HELLAS-FH registry data showed that most FH patients do not reach new LDL-C targets even with maximum statin/ezetimibe therapy. In this scenario, over half of FH patients are candidates for PCSK9i therapy and a significant proportion may still require additional LDL-C lowering.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2021)

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Article Biochemistry & Molecular Biology

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data

Roberto Giugliani et al.

Summary: This article discusses the effectiveness of enzyme replacement therapy on MPS patients and the significant progress in addressing central nervous system symptoms in MPS-II patients with pabinafusp alfa.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Biochemistry & Molecular Biology

Serum Metabolomic and Lipidomic Profiling Reveals Novel Biomarkers of Efficacy for Benfotiamine in Alzheimer's Disease

Ruchika Bhawal et al.

Summary: The study applied a parallel metabolomics and lipidomics approach to investigate the serum metabolome and lipidome of patients treated with BFT, identifying multiple novel biomarkers and potential therapeutic targets involved in glucose metabolism and biosynthesis of aromatic amino acids. Significant differences were found between the placebo and BFT treatment groups in terms of metabolites and lipid species, indicating potential mechanisms underlying the benefits of BFT in Alzheimer's disease.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Epigenetic Mechanisms in Type 2 Diabetes Retinopathy: A Systematic Review

Agostino Milluzzo et al.

Summary: Observational studies have shown that epigenetics play a role in the development of type 2 diabetes retinopathy (T2DR), with miRNA, lnc-RNA, and DNA methylation being involved. However, the use of epigenetic markers in diagnosing and staging T2DR faces challenges, requiring further targeted investigations.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective

Carolina Pinto et al.

Summary: ASMD is a lysosomal storage disease caused by deficient ASM enzyme activity, leading to various clinical features. ASM enzyme replacement therapy is currently in clinical trial to address the underlying pathology of the disease. It is critical to better understand ASMD for improved diagnosis and monitoring.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Genetics & Heredity

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

Rafael Hencke Tresbach et al.

Summary: Thirty-four Brazilian patients with PKU were analyzed using next-generation sequencing, revealing 26 different pathogenic variants. A novel pathogenic variant was found that may affect the stability and activity of the PAH enzyme.

GENES (2021)

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Review Endocrinology & Metabolism

Differential gut microbiota composition between type 2 diabetes mellitus patients and healthy controls: A systematic review

Fatin Umirah et al.

Summary: In patients with type 2 diabetes, there is an increase in lactobacilli and butyrate producers dominate the gut microbiota of healthy controls. The correlation between microbiota and metabolic parameters as well as inflammation is complex and varies among different genera.

DIABETES RESEARCH AND CLINICAL PRACTICE (2021)

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Article Health Care Sciences & Services

Spending For Orphan Indications Among Top-Selling Orphan Drugs Approved To Treat Common Diseases

Kao-Ping Chua et al.

Summary: The study used national commercial claims data to estimate the proportion of spending in the US on fifteen top-selling partial orphan drugs that was assigned to orphan indications in 2018. Of this spending, 21.4 percent was assigned to orphan indications, supporting concerns regarding the costs of granting orphan drug benefits to the sponsors of top-selling partial orphan drugs.

HEALTH AFFAIRS (2021)

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Review Microbiology

Application of computational approaches to analyze metagenomic data

Ho-Jin Gwak et al.

Summary: Microorganisms play vital roles in ecosystems, particularly in soil, ocean, and human gut environments. With the advancement of next-generation sequencing technology, researchers have been exploring the relationship between microbial communities and disease development, developing various methods to investigate microbiomes.

JOURNAL OF MICROBIOLOGY (2021)

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Article Multidisciplinary Sciences

Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease

Margarita M. Ivanova et al.

Summary: Gaucher disease is caused by deficiency of the lysosomal enzyme GCase, leading to substrate accumulation. Enzyme replacement therapy and substrate reduction therapy are currently used, with small molecules like AMB and EGT showing potential in treatment.

PLOS ONE (2021)

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Review Endocrinology & Metabolism

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review

Reza Alibakhshi et al.

Summary: This study conducted a systematic review on PAH gene mutations in Iranian PKU patients, identifying a total of 129 different PAH gene mutations. The spectrum and frequency of mutations observed in Iran were found to be closer to those observed in Mediterranean countries. These results provide valuable information for planning panel-based studies and serve as a reference for genetic counselors and physicians when advising couples on pregnancy decisions.

METABOLIC BRAIN DISEASE (2021)

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Article Genetics & Heredity

Analysis of patient access to orphan drugs in Turkey

Guvenc Kockaya et al.

Summary: This study analyzed the accessibility, reimbursement status, licensed status, and ATC codes of drugs designated as orphan pharmaceuticals by the European Medicines Agency (EMA) in Turkey. The results showed that some of the drugs were inaccessible in Turkey, while most of the licensed drugs were also reimbursable.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Cell & Tissue Engineering

A human ESC line for efficient CRISPR editing of pluripotent stem cells

Elad Sintov et al.

Summary: Human pluripotent stem cells can differentiate into insulin-producing beta cells, but improvements in cell products are still desired, and gene modifications or screening for gene targets may help address certain issues.

STEM CELL RESEARCH (2021)

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Article Multidisciplinary Sciences

CRISPR-enhanced human adipocyte browning as cell therapy for metabolic disease

Emmanouela Tsagkaraki et al.

Summary: This study utilizes CRISPR technology to greatly expand human adipocyte progenitors from subcutaneous adipose tissue and enhance them through disruption of the thermogenic suppressor gene NRIP1. Implantation of these CRISPR-enhanced human or mouse brown-like adipocytes into high fat diet fed mice reduces adiposity and liver triglycerides while improving glucose tolerance. This approach presents a promising therapeutic strategy to enhance metabolic homeostasis without the need for immunogenic Cas9 or delivery vectors in the recipient.

NATURE COMMUNICATIONS (2021)

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Article Health Care Sciences & Services

Meeting the affordability challenges posed by orphan drugs: a survey of payers, providers, and employers

Erin Lopata et al.

Summary: Health care stakeholders are using innovative benefit designs and strategies to cover orphan drugs while maintaining plan affordability. Cost considerations play a prominent role in determining coverage under pharmacy or medical benefits and how providers acquire orphan drugs.

JOURNAL OF MANAGED CARE & SPECIALTY PHARMACY (2021)

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Review Nutrition & Dietetics

The Effects of Almonds on Gut Microbiota, Glycometabolism, and Inflammatory Markers in Patients with Type 2 Diabetes: A Systematic Review and Meta-Analysis of Randomised Controlled Trials

Omorogieva Ojo et al.

Summary: Almonds have significant benefits for patients with type 2 diabetes, including promoting the growth of short-chain fatty acid-producing gut microbiota and reducing HbA1c and BMI levels. However, the effects on fasting blood glucose, 2 h postprandial blood glucose, and other inflammatory markers are not significant.

NUTRIENTS (2021)

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Review Health Care Sciences & Services

Current and Future Treatments for Classic Galactosemia

Britt Delnoy et al.

Summary: Type I classical galactosemia is a hereditary disorder caused by a deficiency of galactose 1-phosphate uridylyltransferase (GALT). The current standard of care, a galactose-restricted diet, is effective but not sufficient in preventing complications. New therapeutic approaches aim to restore GALT activity, influence the cascade of events, and address the clinical picture. Further research is needed to fully understand the precise pathophysiology of the disease.

JOURNAL OF PERSONALIZED MEDICINE (2021)

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Review Health Care Sciences & Services

Galactosemia: Towards Pharmacological Chaperones

Samantha Banford et al.

Summary: Galactosemia is a rare inherited metabolic disease caused by mutations in genes encoding enzymes involved in galactose metabolism. Current therapy is inadequate, with many patients suffering lifelong physical and cognitive disabilities. Proposed novel therapies often focus on treating symptoms rather than the underlying cause, with pharmacological chaperones representing a potential exciting therapy for restoring enzyme function in galactosemia. However, no pharmacological chaperones have yet been identified for potential application in galactosemia.

JOURNAL OF PERSONALIZED MEDICINE (2021)

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Article Pediatrics

National US Patient and Transplant Data for Krabbe Disease

Gabrielle Ghabash et al.

Summary: This study examined national patterns of hematopoietic stem cell transplantation (HSCT) for Krabbe disease (KD) in patients aged 18 years and under in the United States. It found that HSCT was associated with reduced mortality in KD patients and that there were disparities in HSCT utilization based on gender and household income.

FRONTIERS IN PEDIATRICS (2021)

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Article Biochemistry & Molecular Biology

In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity

Francois Ancien et al.

Summary: SMPD1 plays a crucial role in sphingolipid metabolism, and genetic variants are linked to disorders like Niemann-Pick disease. The SMPD1-ZooM algorithm accurately predicts disease-causing variants, highlighting the importance of aromatic interactions for SMPD1 function and stability.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Pharmacology & Pharmacy

miRNA Delivery by Nanosystems: State of the Art and Perspectives

Fernanda C. Moraes et al.

Summary: MicroRNAs (miRNAs) have emerged as potential biopharmaceutical candidates for treating diseases such as cancer and cardiovascular diseases. However, delivering miRNAs remains a major challenge. Non-viral delivery systems have advantages such as versatility, low cost, and low immunogenicity, making them promising for miRNA delivery.

PHARMACEUTICS (2021)

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Review Pharmacology & Pharmacy

Nanoparticle-Based RNAi Therapeutics Targeting Cancer Stem Cells: Update and Prospective

Yongquan Tang et al.

Summary: Cancer stem cells (CSCs) are cells with self-renewal and tumorigenic properties, playing crucial roles in tumor development and resistance to treatment. Targeting CSC signaling pathways is a promising therapeutic strategy, with advancements in cancer omics providing new targets. Nanotechnology for RNAi delivery can enhance efficacy by overcoming limitations of RNAi.

PHARMACEUTICS (2021)

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Article Medicine, Research & Experimental

Metabolic reprogramming during hyperammonemia targets mitochondrial function and postmitotic senescence

Avinash Kumar et al.

Summary: The dysregulated metabolism of ammonia causes reversible mitochondrial dysfunction and induces skeletal muscle senescence through transcriptional and translational perturbations. Multiomics analysis showed the impacts of ammonia lowering on mitochondrial function and protein expression. Dysregulated ammonia metabolism led to reversible defects in electron transport chain complexes and senescence-related molecular changes in skeletal muscle.

JCI INSIGHT (2021)

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Review Endocrinology & Metabolism

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

Asli Inci et al.

Summary: This study reported the first two patients from Turkey with the infantile form of GM2 activator protein deficiency, both carrying a novel likely pathogenic variant. The findings suggest that GM2 activator protein deficiency could be underdiagnosed in the presence of normal beta-hexosaminidase activity, highlighting the importance of further molecular analysis in such cases. Additionally, the identification of a novel pathogenic variant in these patients has expanded the mutation spectrum of GM2 activator protein deficiency.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2021)

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Review Medicine, General & Internal

Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy

Gibran Nasir et al.

Summary: Krabbe Disease is an autosomal metabolic disorder affecting the central and peripheral nervous systems, with no effective therapy currently available. However, recent advancements in gene therapy offer a promising outlook for clinical treatment.

FRONTIERS IN MEDICINE (2021)

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Article Pediatrics

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco

Farah Bibi et al.

KLINISCHE PADIATRIE (2021)

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Article Food Science & Technology

Chickpea Extract Ameliorates Metabolic Syndrome Symptoms via Restoring Intestinal Ecology and Metabolic Profile in Type 2 Diabetic Rats

Pei Li et al.

Summary: This study found that chickpea extract can improve hyperglycemia, inflammatory state, organ functions, and relieve intestinal dysbiosis in diabetic rats. It restores amino acids degradation, bile acids metabolism, and carbohydrate metabolism as prebiotics to prevent diabetes.

MOLECULAR NUTRITION & FOOD RESEARCH (2021)

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Review Biotechnology & Applied Microbiology

Antisense technology: an overview and prospectus

Stanley T. Crooke et al.

Summary: Antisense technology is delivering on its promise to treat diseases by targeting RNA, with nine single-stranded ASO drugs approved for commercial use. In addition to rare diseases, ASOs in development are intended to treat common diseases and show potential for increased potency and performance.

NATURE REVIEWS DRUG DISCOVERY (2021)

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Review Endocrinology & Metabolism

Diabetes and gut microbiota

Yue Xi et al.

Summary: Diabetes has been rapidly increasing on a global scale, with a projected rise in the future. The gut microbiota plays a significant role in the development of diabetes, with interventions such as probiotics, medications, and diet impacting the disease. Targeting the gut microbiota has emerged as a novel therapeutic strategy for diabetes treatment.

WORLD JOURNAL OF DIABETES (2021)

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Article Multidisciplinary Sciences

Gene-level metagenomic architectures across diseases yield high-resolution microbiome diagnostic indicators

Braden T. Tierney et al.

Summary: The study explores strain-specific and cross-disease associations in the microbiome across seven human diseases, finding gene-level signatures shared by coronary artery disease, inflammatory bowel diseases, and liver cirrhosis, as well as a distinct metagenomic signature for type 2 diabetes. Discrepancies are observed in the reported connection between Solobacterium moorei and colorectal cancer across models, but strain-specific gene associations are identified.

NATURE COMMUNICATIONS (2021)

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Article Genetics & Heredity

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy

Ji Hong Park et al.

Summary: Tay-Sachs disease is a rare lysosomal storage disease caused by mutations in the HEXA gene. Three Korean children were diagnosed with infantile-type TSD through enzyme assay and genetic analysis, showing the importance of fundus examination for early diagnosis of neurodevelopmental regression in children.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

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Review Microbiology

Structural diversity, functional aspects and future therapeutic applications of human gut microbiome

Soma Ghosh et al.

Summary: Research on human gut microbiome is in its infancy, with predominant microbial communities playing significant roles in digestion, metabolism, and immunity. Companies worldwide are beginning to capitalize on the therapeutic potential of intestinal microbiota for a range of metabolic and systemic disorders.

ARCHIVES OF MICROBIOLOGY (2021)

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Article Cell Biology

Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector

Mari Ohira et al.

Summary: The novel Sendai virus vector shows potential for therapeutic use in treating lysosomal storage disorders, demonstrating high efficiency in gene expression and protein production.

GENES TO CELLS (2021)

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Article Biochemistry & Molecular Biology

Lipoprotein Lipase Gene Polymorphisms Are Associated with Myocardial Infarction Risk: A Meta-Analysis

Kunhui He et al.

Summary: The meta-analysis suggests that LPL HindIII and S447X polymorphisms may be protective factors for myocardial infarction, while PvuII is not associated. There are ethnic differences in the response to these polymorphisms, indicating the need for larger case-control studies to confirm the results.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2021)

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Article Cardiac & Cardiovascular Systems

The Gut Microbiota and Their Metabolites in Human Arterial Stiffness

Evany Dinakis et al.

Summary: The study found that arterial stiffness is associated with lower levels of the metabolite-sensing receptors GPR41/GPR43 in humans, blunting its response to BP-lowering metabolites such as butyrate. The role of Lactobacillus spp. and Clostridium spp., as well as butyrate-sensing receptors GPR41/GPR43, in human arterial stiffness needs to be determined.

HEART LUNG AND CIRCULATION (2021)

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Article Biochemistry & Molecular Biology

mRNA Expression of SMPD1 Encoding Acid Sphingomyelinase Decreases upon Antidepressant Treatment

Cosima Rhein et al.

Summary: The study found that ASM activity and SMPD1 mRNA expression levels are related to MDD, and antidepressant drugs can improve MDD symptoms by inhibiting ASM activity. Moreover, SMPD1 mRNA expression levels may serve as a molecular marker for monitoring the treatment and adherence of MDD.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

A review on gut microbiota: a central factor in the pathophysiology of obesity

A. L. Cunningham et al.

Summary: Obesity and gut microbiota have complex relationships, with microbiota playing a crucial role in influencing host health. Research into the contribution of gut microbiota towards host pathophysiology is leading to the development of new therapeutic methods to address the global obesity epidemic.

LIPIDS IN HEALTH AND DISEASE (2021)

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Article Endocrinology & Metabolism

Transient developmental delays in infants with Duarte-2 variant galactosemia

Susan E. Waisbren et al.

Summary: Duarte galactosemia is a biochemical variant of galactosemia with 25% residual GALT enzyme activity, not requiring diet therapy like classic galactosemia. Individuals with Duarte-2 galactosemia have developmental outcomes within the average range, but some may still require early intervention and speech therapy. Duarte-2 galactosemia may increase the risk of mild developmental delays in early infancy, regardless of diet history.

MOLECULAR GENETICS AND METABOLISM (2021)

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Review Endocrinology & Metabolism

Examining the association between adiposity and DNA methylation: A systematic review and meta-analysis

Whitney L. Do et al.

Summary: Obesity is associated with widespread differential DNA methylation patterns, with specific CpG sites potentially serving as mediators of obesity-related chronic diseases, providing novel targets for intervention or treatment against such diseases.

OBESITY REVIEWS (2021)

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Review Pediatrics

Domino transplantation for pediatric liver recipients: Obstacles, challenges, and successes

Vikram K. Raghu et al.

Summary: Domino liver transplantation is aimed at increasing liver donor supply, where donors typically have a single gene defect but otherwise normal structure and function. The procedure is now considered a source of marginal donor livers in adult recipients, while in pediatric recipients, specific metabolic disorders are leveraged for successful transplantation, with advances in surgical techniques improving safety.

PEDIATRIC TRANSPLANTATION (2021)

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Article Biochemistry & Molecular Biology

In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease

Ahmad Almanasra et al.

Summary: In this study, in silico methods were used to analyze the impact of nsSNPs on HexA and two mutants, P25S and W485R, were found to have increased structural flexibility and decreased hydrogen bond frequencies compared to the wildtype, indicating a decrease in binding affinity. MM/GBSA calculations showed that both mutants had a decrease in binding affinity compared to the wildtype, suggesting a potential decrease in HexA activity.

PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2021)

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Article Immunology

Gut Bacterial Characteristics of Patients With Type 2 Diabetes Mellitus and the Application Potential

Yanyan Que et al.

Summary: Research shows significant differences in microbial diversity between individuals with type 2 diabetes mellitus (T2DM) and controls, but not in microbial alpha diversity. Various operational taxonomic units (OTUs) and bacterial genera with significant odds ratios for T2DM were identified. The microbial characteristics of T2DM can be applied to other studies, improving detection accuracy and disease specificity for T2DM through training on multiple research studies.

FRONTIERS IN IMMUNOLOGY (2021)

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Article Microbiology

Type 1 diabetes in pregnancy is associated with distinct changes in the composition and function of the gut microbiome

Alexandra J. Roth-Schulze et al.

Summary: This study found that pregnant women with T1D experienced significant changes in their gut microbiome towards a more pro-inflammatory state, associated with evidence of intestinal inflammation and epithelial damage. These changes could contribute to the increased risk of pregnancy complications in women with T1D and may be modifiable through dietary means.

MICROBIOME (2021)

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Review Endocrinology & Metabolism

Emerging Role of Long Non-Coding RNAs in Diabetic Vascular Complications

Vinay Singh Tanwar et al.

Summary: Chronic metabolic disorders like obesity and diabetes are associated with accelerated vascular complications, and long non-coding RNAs play a crucial role in regulating gene expression in these diseases. Understanding the characteristics and mechanisms of lncRNAs can provide insights for the development of new therapeutic approaches to manage these disorders effectively.

FRONTIERS IN ENDOCRINOLOGY (2021)

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Article Cell Biology

Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease

Yanyan Peng et al.

Summary: This study demonstrates that substrate reduction therapy can effectively ameliorate substrate accumulation in neurons of patients with Gaucher disease, reduce enlarged lysosomes and autophagic vacuoles, improve mitochondrial function, decrease hyperactivity of proteins in the mTORC1 pathway, and enhance cell proliferation. These findings suggest mitochondria and the mTORC1 complex as potential therapeutic targets for the treatment of Gaucher disease.

CELLS (2021)

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Article Endocrinology & Metabolism

A cross-sectional study of the relationship between quality of life and sleep quality in Japanese patients with type 1 diabetes mellitus

Masahiro Ichikawa et al.

Summary: This study reveals the relationship between quality of life and sleep quality in patients with type 1 diabetes mellitus, indicating that assessing and managing sleep quality may be necessary to improve QOL for diabetes patients. The study also found differences in the relationship between QOL and PSQI subscales in type 1 diabetes mellitus patients compared to type 2 diabetes mellitus patients.

ENDOCRINE JOURNAL (2021)

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Review Orthopedics

The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular Atrophy

Amber N. Edinoff et al.

Summary: Spinal muscular atrophy (SMA) is a rare neuromuscular degenerative disease characterized by loss of spinal cord motor neurons leading to muscle wasting. Nusinersen, an ASO drug approved by FDA, has shown promising results in improving motor function and reducing ventilator requirements in SMA patients.

ORTHOPEDIC REVIEWS (2021)

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Article Biochemistry & Molecular Biology

COVID-19 induces new-onset insulin resistance and lipid metabolic dysregulation via regulation of secreted metabolic factors

Xi He et al.

Summary: Insulin resistance, hyperglycemia, and decreased HDL-C were found in COVID-19 patients without pre-existing metabolic diseases, with increased expression of REST by SARS-CoV-2 infection being the mechanistic link. Specific lipids were identified as potential biomarkers of COVID-19-induced metabolic dysregulation, especially in insulin resistance.

SIGNAL TRANSDUCTION AND TARGETED THERAPY (2021)

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Article Cell Biology

Multi-omic evaluation of metabolic alterations in multiple sclerosis identifies shifts in aromatic amino acid metabolism

Kathryn C. Fitzgerald et al.

Summary: The study explored the pathophysiology of multiple sclerosis (MS) through the circulating metabolome, revealing abnormalities in aromatic amino acid (AAA) metabolism in PwMS that are associated with disability. Additionally, analysis of scRNA-seq data indicated altered AAA metabolism in PwMS.

CELL REPORTS MEDICINE (2021)

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Review Genetics & Heredity

Advances in the Diagnosis and Treatment of Krabbe Disease

David A. Wenger et al.

Summary: Krabbe disease is a recessive leukodystrophy caused by pathogenic variants in the GALC gene, with symptoms typically appearing in infants but also diagnosable in older patients. Early diagnosis and treatment play a crucial role in improving patients' quality of life.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Review Endocrinology & Metabolism

Expression of miRNA in obesity and insulin resistance: a review

Paulina Estrella-Ibarra et al.

Summary: miRNAs are part of epigenetic mechanisms regulating gene expression post-transcriptionally. Dysregulation of miRNA expression in obesity is associated with changes in gene expression related to the development of insulin resistance. Considering their potential as biological markers and therapeutic targets, miRNAs have been proposed as valuable tools for disease diagnosis and treatment.

ENDOKRYNOLOGIA POLSKA (2021)

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Article Gastroenterology & Hepatology

Links between gut microbiome composition and fatty liver disease in a large population sample

Matti O. Ruuskanen et al.

Summary: The study investigated the association between FLI and gut microbiome composition, identifying differences in microbial groups in individuals with high FLI, indicating a potential link between gut microbiota and fatty liver disease.

GUT MICROBES (2021)

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Article Biology

An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia

Udhaya S. Kumar et al.

COMPUTERS IN BIOLOGY AND MEDICINE (2020)

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Review Genetics & Heredity

Familial hypercholesterolemia: A complex genetic disease with variable phenotypes

Maria Donata Di Taranto et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)

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Review Biochemistry & Molecular Biology

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

Francesca D'Avanzo et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Neurosciences

A new compound heterozygous mutation in adult-onset Krabbe disease

Xianghe Meng et al.

INTERNATIONAL JOURNAL OF NEUROSCIENCE (2020)

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Review Genetics & Heredity

Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran

Pedro Renato de Paula Brandao et al.

MOLECULAR DIAGNOSIS & THERAPY (2020)

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Article Genetics & Heredity

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Anna Malekkou et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2020)

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Review Biochemistry & Molecular Biology

Nutrients and Porphyria: An Intriguing Crosstalk

Elena Di Pierro et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Genetics & Heredity

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Pediatrics

High-Throughput Sequencing Reveals the Loss-of-Function Mutations inGALTCause Recessive Classical Galactosemia

Lulu Li et al.

FRONTIERS IN PEDIATRICS (2020)

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Article Genetics & Heredity

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Tamara S. Roman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Biochemistry & Molecular Biology

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

J. J. Grzymski et al.

NATURE MEDICINE (2020)

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Article Multidisciplinary Sciences

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties

Shubhrajit Roy et al.

SCIENTIFIC REPORTS (2020)

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Review Biochemistry & Molecular Biology

Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders

Jing Xu et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Pharmacology & Pharmacy

The economic impact of familial hypercholesterolemia on productivity

Zanfina Ademi et al.

JOURNAL OF CLINICAL LIPIDOLOGY (2020)

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Article Medicine, Research & Experimental

Phenylketonuria, from diet to gene therapy

Arnaud Wiedemann et al.

M S-MEDECINE SCIENCES (2020)

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Review Medicine, General & Internal

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified

Ruta Rokaite et al.

MEDICINA-LITHUANIA (2020)

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Review Endocrinology & Metabolism

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach

S. C. Van Calcar et al.

MOLECULAR GENETICS AND METABOLISM (2020)

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Review Biochemistry & Molecular Biology

Understanding and Treating Niemann-Pick Type C Disease: Models Matter

Valentina Pallottini et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Medicine, General & Internal

Effect of High-Dose Omega-3 Fatty Acids vs Corn Oil on Major Adverse Cardiovascular Events in Patients at High Cardiovascular Risk The STRENGTH Randomized Clinical Trial

Stephen J. Nicholls et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2020)

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Article Genetics & Heredity

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

Yasuyuki Fukuhara et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2020)

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Article Genetics & Heredity

Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele

Carolina Crespo et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2020)

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Review Pediatrics

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines

Isabella Barcelos et al.

CURRENT OPINION IN PEDIATRICS (2020)

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Review Nutrition & Dietetics

Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU): A Review

Elvira Verduci et al.

NUTRIENTS (2020)

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Article Medicine, Research & Experimental

Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China

Zhendong Zhao et al.

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION (2020)

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Correction Cell Biology

RNA-Targeted Therapeutics (vol 27, pg 714, 2018)

Stanley T. Crooke et al.

CELL METABOLISM (2019)

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Review Endocrinology & Metabolism

Economic Impact of Diabetes in Africa

Clarisse Mapa-Tassou et al.

CURRENT DIABETES REPORTS (2019)

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Review Clinical Neurology

Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes

Josef Finsterer

JOURNAL OF THE NEUROLOGICAL SCIENCES (2019)

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Article Cardiac & Cardiovascular Systems

Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk

Seohyuk Lee et al.

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (2019)

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Article Biotechnology & Applied Microbiology

First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan

Tawfiq Froukh

BIOMED RESEARCH INTERNATIONAL (2019)

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Article Genetics & Heredity

Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study

Rena Papachristoforou et al.

ANNALS OF HUMAN GENETICS (2019)

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Review Endocrinology & Metabolism

Economic Impact of Diabetes in South Asia: the Magnitude of the Problem

Kavita Singh et al.

CURRENT DIABETES REPORTS (2019)

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Review Infectious Diseases

Controversy around airborne versus droplet transmission of respiratory viruses: implication for infection prevention

Eunice Y. C. Shiu et al.

CURRENT OPINION IN INFECTIOUS DISEASES (2019)

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Article Clinical Neurology

Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone

Jun Sung Lee et al.

BRAIN (2019)

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Article Cardiac & Cardiovascular Systems

Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype

Hayato Tada et al.

CIRCULATION JOURNAL (2019)

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Article Biotechnology & Applied Microbiology

State-of-the-Art 2019 on Gene Therapy for Phenylketonuria

Hiu Man Grisch-Chan et al.

HUMAN GENE THERAPY (2019)

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Article Endocrinology & Metabolism

Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants

Annika Ohlsson et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

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Article Endocrinology & Metabolism

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene

I. Kuznetcova et al.

METABOLIC BRAIN DISEASE (2019)

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Article Clinical Neurology

Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis

Priyanka Madaan et al.

NEUROPEDIATRICS (2019)

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Review Medical Laboratory Technology

Wilson disease

Maha Guindi

SEMINARS IN DIAGNOSTIC PATHOLOGY (2019)

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Article Multidisciplinary Sciences

Genetic association of LPL rs1121923 and rs258 with plasma TG and VLDL levels

Suzanne A. Al-Bustan et al.

SCIENTIFIC REPORTS (2019)

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Review Endocrinology & Metabolism

Impact of severe hypoglycaemia on psychological outcomes in adults with Type 2 diabetes: a systematic review

C. Hendrieckx et al.

DIABETIC MEDICINE (2019)

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Article Medicine, General & Internal

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases

Mark L. Schultz et al.

BMC MEDICINE (2019)

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Review Endocrinology & Metabolism

Economic Impact of Diabetes in Japan

Tatsuhiko Urakami et al.

CURRENT DIABETES REPORTS (2019)

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Article Endocrinology & Metabolism

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

Seth A. Sharp et al.

DIABETES CARE (2019)

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Review Clinical Neurology

Neurological effects of glucocerebrosidase gene mutations

S. Mullin et al.

EUROPEAN JOURNAL OF NEUROLOGY (2019)

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Article Genetics & Heredity

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

Dhanya Lakshmi Narayanan et al.

JOURNAL OF HUMAN GENETICS (2019)

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Article Biochemistry & Molecular Biology

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene

Miriam Kolnikova et al.

JOURNAL OF MOLECULAR NEUROSCIENCE (2019)

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