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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| Format: | Article |
| Language: | Russian |
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ABV-press
2015-12-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/131 |