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

BACKGROUND: 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 chitotriosida...

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Bibliografiset tiedot
Päätekijät: Rolfs, Arndt, Giese, Anne-Katrin, Grittner, Ulrike, Mascher, Daniel, Elstein, Deborah, Zimran, Ari, Böttcher, Tobias, Lukas, Jan, Hübner, Rayk, Gölnitz, Uta, Röhle, Anja, Dudesek, Ales, Meyer, Wolfgang, Wittstock, Matthias, Mascher, Hermann
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2013
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3835853/
https://ncbi.nlm.nih.gov/pubmed/24278166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0079732
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