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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.
Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, Zimran A, Böttcher T, Lukas J, Hübner R, Gölnitz U, Röhle A, Dudesek A, Meyer W, Wittstock M, Mascher H. Rolfs A, et al. PLoS One. 2013 Nov 20;8(11):e79732. doi: 10.1371/journal.pone.0079732. eCollection 2013. PLoS One. 2013. PMID: 24278166 Free PMC article.
Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.
Hovakimyan M, Meyer A, Lukas J, Luo J, Gudziol V, Hummel T, Rolfs A, Wree A, Witt M. Hovakimyan M, et al. Among authors: rolfs a. PLoS One. 2013 Dec 31;8(12):e82216. doi: 10.1371/journal.pone.0082216. eCollection 2013. PLoS One. 2013. PMID: 24391715 Free PMC article.
419 results