Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

Author:

Liguori RoccoORCID,Incensi Alex,de Pasqua Silvia,Mignani Renzo,Fileccia Enrico,Santostefano Marisa,Biagini Elena,Rapezzi Claudio,Palmieri Silvia,Romani Ilaria,Borsini Walter,Burlina Alessandro,Bombardi Roberto,Caprini Marco,Avoni Patrizia,Donadio Vincenzo

Funder

Ricerca Finalizzata Ministero della Salute

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference37 articles.

1. Structural organization of the human a-galactosidase A gene: Further evidence for the absence of a 3’ untranslated region;DF Bishop;Proc Natl Acad Sci,1988

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

4. Enzymatic synthesis of Gb3 and iGb3 ceramides;D Adlercreutz;Carbohydr Res,2010

5. The metabolic and molecular bases of inherited disease;RJ Desnick,2001

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