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Late-Onset Fabry Disease Affecting the Kidneys and Liver While Sparing the Heart: A Case Report

Fabry disease (FD), also known as Anderson-Fabry disease, is an X-linked inherited lysosomal storage disorder caused by the deficiency or reduced activity of alpha-galactosidase A enzyme, which results in the accumulation of globotriaosylceramide (Gb3) in the cells. Atypical (late-onset) FD is chara...

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Detalles Bibliográficos
Autor principal: Alitter, Qusai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715366/
https://www.ncbi.nlm.nih.gov/pubmed/36475199
http://dx.doi.org/10.7759/cureus.30989