Results 21 to 30 of about 9,057,553 (322)
A Case Report of Fabry Disease Associated with Dermatomyositis
罕见病研究, 2023 Fabry disease is an X-linked lysosomal storage disease, and its pathogenesis is the deficient of α-galactosidase A (α-Gal A) activity caused by GLA mutation, which leads to accumulation of the glycosphingolipid globotriaosylceramide (Gb-3) and other ...
ZHOU Yi +3 more
doaj +1 more source
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Clinical Genetics, 2021 Fabry disease (FD) is an X‐linked genetic disease due to pathogenic variants in GLA. The phenotype varies depending on the GLA variant, alpha‐galactosidase residual activity, patient's age and gender and, for females, X chromosome inactivation. Over 1000
D. Germain +8 more
semanticscholar +1 more source
Canadian Journal of Kidney Health and Disease, 2023 Background: Fabry disease is a rare disorder caused by the deficient activity of α-galactosidase A (GLA) that often leads to organ damage. Fabry disease can be treated with enzyme replacement or pharmacological therapy, but due to its rarity and ...
Reid H. Whitlock +7 more
doaj +1 more source
International Journal of Molecular Sciences, 2021 Anderson–Fabry disease (AFD) is a rare disease with an incidenceof approximately 1:117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element characterizing Fabry disease due to a hereditary deficiency α-galactosidase A ...
A. Tuttolomondo +6 more
semanticscholar +1 more source
Human kidney organoids reveal the role of glutathione in Fabry disease
Experimental and Molecular Medicine, 2021 Fabry disease is an X-linked lysosomal storage disease caused by a mutation in the galactosidase alpha (GLA) gene. Despite advances in therapeutic technologies, the lack of humanized experimental models of Fabry disease has limited the development of new
J. Kim +6 more
semanticscholar +1 more source
Genetics in Medicine, 2016 Fabry disease is caused by mutations in the GLA gene that lower α-galactosidase A activity to less than 25-30% of the mean normal level. Several GLA variants have been identified that are associated with relatively elevated residual α-galactosidase A.
Schiffmann, R. +3 more
openaire +4 more sources
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. [PDF]
PLoS ONE, 2016 Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in Fabry patients. Podocyte injury occurs early in age, and is progressive.
Brent Fall +8 more
doaj +1 more source
Treatment of Fabry Nephropathy: A Literature Review
Medicina, 2023 Fabry disease is an X-linked inherited lysosomal storage disorder with a deficiency of α-galactosidase A activity, which results in the intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in various organs.
Homare Shimohata +4 more
doaj +1 more source
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers
Journal of the American Heart Association, EarlyView., 2021 Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes +14 more
wiley +1 more source
An expert consensus document on the management of cardiovascular manifestations of Fabry disease
European Journal of Heart Failure, 2020 Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α‐galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide ...
A. Linhart +12 more
semanticscholar +1 more source