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Fabry Disease Presenting as End-Stage Kidney Disease
BACKGROUND: Fabry disease (FD) is an X-linked disorder due to a pathogenic variant of the GLA gene that codes for the alpha-galactosidase enzyme. The reduced or absent activity of the enzyme results in lysosomal accumulation of globotriosylceramide and its derivative, globotriaosylsphingosine, in a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601945/ https://www.ncbi.nlm.nih.gov/pubmed/37901696 http://dx.doi.org/10.1159/000533502 |