Clinical heterogeneity in Fabry disease

Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500), caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system clinical manifestations, even...

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Bibliographic Details
Published in:Нервно-мышечные болезни
Main Author: G. N. Salogub
Format: Article
Language:Russian
Published: ABV-press 2015-12-01
Subjects:
lysosomal storage diseases
fabry disease
α-galactosidase
globotriaosylceramide
clinical heterogeneity
enzyme replacement therapy
agalsidase
acroparesthesias
neuropathic pain
proteinuria
glomerular filtration rate
criptogenic stroke
Online Access:https://nmb.abvpress.ru/jour/article/view/131

Internet

https://nmb.abvpress.ru/jour/article/view/131

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