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Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?

Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb(3)) and related glycosphingolipids in many cell types...

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Detalles Bibliográficos
Autores principales: Waldek, Stephen, Feriozzi, Sandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029839/
https://www.ncbi.nlm.nih.gov/pubmed/24886109
http://dx.doi.org/10.1186/1471-2369-15-72