Variable phenotypic presentations of renal involvement in Fabry disease: a case series

Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal func...

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Detalles Bibliográficos
Autores principales: McCloskey, Sarah, Brennan, Paul, Sayer, John A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930549/
https://www.ncbi.nlm.nih.gov/pubmed/29770213
http://dx.doi.org/10.12688/f1000research.13708.1