טוען...
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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| Main Authors: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Society of Diabetic Nephropathy Prevention
2012
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| נושאים: | |
| גישה מקוונת: | 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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