Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.

Autor: Lenders M; Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster, Germany malte.lenders@ukmuenster.de., Stappers F; Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster, Germany., Niemietz C; Medizinische Klinik B für Gastroenterologie und Hepatologie, University Hospital Muenster, Muenster, Germany., Schmitz B; Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Muenster, Muenster, Germany., Boutin M; Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada., Ballmaier PJ; Medizinische Klinik B für Gastroenterologie und Hepatologie, University Hospital Muenster, Muenster, Germany., Zibert A; Medizinische Klinik B für Gastroenterologie und Hepatologie, University Hospital Muenster, Muenster, Germany., Schmidt H; Medizinische Klinik B für Gastroenterologie und Hepatologie, University Hospital Muenster, Muenster, Germany., Brand SM; Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Muenster, Muenster, Germany., Auray-Blais C; Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada., Brand E; Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster, Germany.

Publikováno v: Journal of medical genetics [J Med Genet] 2019 Aug; Vol. 56 (8), pp. 548-556. Date of Electronic Publication: 2019 Apr 22.