Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

by Jan Lukas, Chiara Cimmaruta, Ludovica Liguori, Supansa Pantoom, Katharina Iwanov, Janine Petters, Christina Hund, Maik Bunschkowski, Andreas Hermann, Maria Vittoria Cubellis, Arndt Rolfs
Published 2020-01-01

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test

by Xiao Feng, Claudia Cozma, Supansa Pantoom, Christina Hund, Katharina Iwanov, Janine Petters, Christin Völkner, Claudia Bauer, Florian Vogel, Peter Bauer, Frank U. Weiss, Markus M. Lerch, Anne-Marie Knospe, Andreas Hermann, Moritz J. Frech, Jiankai Luo, Arndt Rolfs, Jan Lukas
Published 2019-10-01