Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy
Author:
Funder
Ricerca Finalizzata Ministero della Salute
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference37 articles.
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2. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency;RO Brady;N Engl J Med,1967
3. Fabry’s disease: alpha-galactosidase deficiency;JA Kint;Science,1970
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