Sabrina Eichler

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Anne‐Katrin Giese, Hermann Mascher, Ulrike Grittner et al. · Orphanet Journal of Rare Diseases · 2015 · 126 citations · Full text

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

Jan Lukáš, Simone Scalia, Sabrina Eichler et al. · Human Mutation · 2015 · 66 citations

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials

Deborah Elstein, Björn Mellgård, Quinn Dinh et al. · Molecular Genetics and Metabolism · 2017 · 49 citations · Full text

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

Claudia Cozma, Marius‐Ionuţ Iuraşcu, Sabrina Eichler et al. · Scientific Reports · 2017 · 39 citations · Full text

Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological Role in Gaucher Disease

Jan Lukáš, Claudia Cozma, Fan Yang et al. · International Journal of Molecular Sciences · 2017 · 28 citations · Full text