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Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype– phenotype correlations
Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enz...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Dove Medical Press
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407513/ https://www.ncbi.nlm.nih.gov/pubmed/30881085 http://dx.doi.org/10.2147/TACG.S146022 |