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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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| Publicado no: | Clin Kidney J |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4432426/ https://ncbi.nlm.nih.gov/pubmed/26019818 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sfs119 |
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