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Early Renal Involvement in a Girl with Classic Fabry Disease
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversia...
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| Publicado no: | Case Rep Nephrol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5642869/ https://ncbi.nlm.nih.gov/pubmed/29098097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/9543079 |
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