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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...

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Detalles Bibliográficos
Autores principales: Pahl, Madeleine V., Hou, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
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