Claudia Cozma

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane et al. · European Journal of Human Genetics · 2020 · 115 citations · Full text

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

Noa Hurvitz, Tama Dinur, Michal Becker‐Cohen et al. · International Journal of Molecular Sciences · 2019 · 68 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

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

Yoon-Myung Kim, Mi‐Sun Yum, Sun Hee Heo et al. · Journal of Medical Genetics · 2019 · 58 citations · Full text

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