Article
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
PloS one - 1 Jan 2017
Liguori Rocco, 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
Abstract excerpt
BACKGROUND: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms;...
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