Article
Sweat Gland Biopsy: A Possible Early Diagnostic Tool in the Anderson-Fabry Disease
2016-08-30
Abstract excerpt
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient or absent activity of the enzyme alfa-galactosidase A. This defect enzyme leads to accumulation of glycolipids, primarily globotriaosylceramide (Gb3), in the vascular endothelium of several organs, including the skin, kidneys, nervous system, and heart. The characteristic early clinical features of Fabry disease include acropa...
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Identifiers and source
- Literature Corpus work
- da3672cb-40e2-5a3d-b798-7f4724303136
- DOI
- 10.20944/preprints201608.0228.v1