Progress in Diagnosis and Treatment of Children having Fabry Disease
Fabry disease (FD) is a rare progressive X-linked genetic lysosomal storage disorder. Mutations of the GLA gene result in deficiency of α-galactosidase (α-Gal A), and the accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3) and derivatives deacylated derivative globotriaosyl...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Jezik: | zho |
| Izdano: |
Editorial Office of Journal of Rare Diseases
2022-07-01
|
| Serija: | 罕见病研究 |
| Teme: | |
| Online dostop: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.020 |