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A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A. Giese AK, et al. Among authors: mascher h. Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1. Orphanet J Rare Dis. 2015. PMID: 26082315 Free PMC article.
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. Among authors: mascher h. PLoS One. 2013 Nov 20;8(11):e79732. doi: 10.1371/journal.pone.0079732. eCollection 2013. PLoS One. 2013. PMID: 24278166 Free PMC article.
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
Rolfs A, Fazekas F, Grittner U, Dichgans M, Martus P, Holzhausen M, Böttcher T, Heuschmann PU, Tatlisumak T, Tanislav C, Jungehulsing GJ, Giese AK, Putaala J, Huber R, Bodechtel U, Lichy C, Enzinger C, Schmidt R, Hennerici MG, Kaps M, Kessler C, Lackner K, Paschke E, Meyer W, Mascher H, Riess O, Kolodny E, Norrving B; Stroke in Young Fabry Patients (sifap) Investigators. Rolfs A, et al. Among authors: mascher h. Stroke. 2013 Feb;44(2):340-9. doi: 10.1161/STROKEAHA.112.663708. Epub 2013 Jan 10. Stroke. 2013. PMID: 23306324 Clinical Trial.
82 results