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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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Pubblicato in:PLoS One
Autori principali: Üçeyler, Nurcan, Schröter, Nils, Kafke, Waldemar, Kramer, Daniela, Wanner, Christoph, Weidemann, Frank, Sommer, Claudia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5112934/
https://ncbi.nlm.nih.gov/pubmed/27851774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0166484
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