Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as well as analysis of chitotriosidase and CCL18...

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Bibliographic Details
Main Authors: Arndt Rolfs, Anne-Katrin Giese, Ulrike Grittner, Daniel Mascher, Deborah Elstein, Ari Zimran, Tobias Böttcher, Jan Lukas, Rayk Hübner, Uta Gölnitz, Anja Röhle, Ales Dudesek, Wolfgang Meyer, Matthias Wittstock, Hermann Mascher
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3835853?pdf=render

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http://europepmc.org/articles/PMC3835853?pdf=render

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