Results 21 to 30 of about 9,220,596 (237)
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
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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
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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
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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
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
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Molecular Genetics & Genomic Medicine, 2021 Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available.
D. Germain +18 more
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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
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Molecular Genetics and Metabolism Reports, 2021 In Fabry disease, accumulation of glycolipids, predominantly globotriaosylceramide (Gb3), affects the kidneys, and nephropathy is one of the important disorders that influence the disease severity and prognosis of patients.
Tomoko Shiga +4 more
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Prevalence of Fabry disease-causing variants in the UK Biobank
Journal of Medical Genetics, 2021 Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ sites with prominent cardiovascular and renal involvement.
M. Gilchrist +8 more
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Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment
罕见病研究, 2023 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations of the GLA gene, resulting in the decreased a-galactosidase A activity and the accumulation of its substrate globotriasylceramide (GL-3) in the heart, kidney and other ...
LI Zhuojin, JIN Wei
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