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...
| Published in: | 罕见病研究 |
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| Main Authors: | , |
| Format: | Article |
| Language: | Chinese |
| Published: |
Editorial Office of Journal of Rare Diseases
2022-07-01
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| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.020 |