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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| Format: | Book |
| Published: |
Society of Diabetic Nephropathy Prevention,
2012-10-01T00:00:00Z.
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