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

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 immunofluores...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495508/
https://www.ncbi.nlm.nih.gov/pubmed/28672034
http://dx.doi.org/10.1371/journal.pone.0180581

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