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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| 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 |