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A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation

BACKGROUND: Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA). CASE PRESENTATION: A 46 year-old man with progressive kidney disease showed on kidney biopsy electron microscopic e...

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Detalhes bibliográficos
Main Authors: H. Mukdsi, Jorge, Gutiérrez, Silvina, Barrón, Belén, Novoa, Pablo, Fernández, Segundo, de Diller, Ana B, I. Torres, Alicia, Formica Jr., Richard N, Orías, Marcelo
Formato: Artigo
Idioma:Inglês
Publicado em: Society of Diabetic Nephropathy Prevention 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3886146/
https://ncbi.nlm.nih.gov/pubmed/24475416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5812/nephropathol.8123
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