Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations of the GLA gene, resulting in the decreased a-galactosidase A activity and the accumulation of its substrate globotriasylceramide (GL-3) in the heart, kidney and other organs. The main clinical manifestations of ca...
| Автори: | , |
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| Формат: | Стаття |
| Мова: | zho |
| Опубліковано: |
Editorial Office of Journal of Rare Diseases
2023-01-01
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| Серія: | 罕见病研究 |
| Предмети: | |
| Онлайн доступ: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.01.017 |