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Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease

BACKGROUND: The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 de...

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Detalles Bibliográficos
Autores principales:	Üçeyler, Nurcan, Schröter, Nils, Kafke, Waldemar, Kramer, Daniela, Wanner, Christoph, Weidemann, Frank, Sommer, Claudia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112934/ https://www.ncbi.nlm.nih.gov/pubmed/27851774 http://dx.doi.org/10.1371/journal.pone.0166484

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