First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathoge...
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| Principais autores: | , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMC
2020-06-01
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| 叢編: | BMC Medical Genetics |
| 主題: | |
| 在線閱讀: | http://link.springer.com/article/10.1186/s12881-020-01071-5 |
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