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Renal variant of Fabry disease with sporadic GLA gene mutation: role of early renal biopsy

Fabry disease (FD) is a rare, X-linked inherited disease of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A activity. Scarce activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide (Gb3) within lysosomes, believed to trigger...

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Detalles Bibliográficos
Autores principales:	Al-Salam, Suhail, Chaaban, Ahmed, Al-Jasmi, Fatima, Amann, Kerstin, Abouchacra, Samra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2012
Materias:	Original Contributions
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432426/ https://www.ncbi.nlm.nih.gov/pubmed/26019818 http://dx.doi.org/10.1093/ckj/sfs119

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