A Case Report of Fabry Disease Associated with Dermatomyositis

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 glycosphingolipids in the lysosome of cells, resul...

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Bibliographic Details
Main Authors: ZHOU Yi, WU Chanyuan, CHENG Kang′an, WANG Liang
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2023-01-01
Series:罕见病研究
Subjects:
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.015