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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of Rare Diseases
2023-01-01
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| 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 |