Results 21 to 30 of about 9,399,207 (308)
Chaperone Therapy in Fabry Disease
International Journal of Molecular Sciences, 2022 Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular ...
F. Weidemann +3 more
semanticscholar +1 more source
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy. [PDF]
PLoS ONE, 2016 Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has ...
Bianca T A de Greef +7 more
doaj +1 more source
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
Fabry disease: Mechanism and therapeutics strategies
Frontiers in Pharmacology, 2022 Fabry disease is a monogenic disease characterized by a deficiency or loss of the α-galactosidase A (GLA). The resulting impairment in lysosomal GLA enzymatic activity leads to the pathogenic accumulation of enzymatic substrate and, consequently, the ...
Xi Li +5 more
semanticscholar +1 more source
Journal of the American Society of Nephrology, 2014 Fabry disease is an X-linked disorder resulting from mutations of the gene that encodes the lysosomal hydrolase α -galactosidase A, and leads to progressive lysosomal accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids.[1][1] In classically affected male patients ...
David G, Warnock, Michael, Mauer
openaire +4 more sources
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
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
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