Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

by Jan Lukas, Anne-Katrin Giese, Arseni Markoff, Ulrike Grittner, Ed Kolodny, Hermann Mascher, Karl J Lackner, Wolfgang Meyer, Phillip Wree, Viatcheslav Saviouk, Arndt Rolfs
Published 2013-01-01

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 dis...

by Arndt Rolfs, Anne-Katrin Giese, Ulrike Grittner, Daniel Mascher, Deborah Elstein, Ari Zimran, Tobias Böttcher, Jan Lukas, Rayk Hübner, Uta Gölnitz, Anja Röhle, Ales Dudesek, Wolfgang Meyer, Matthias Wittstock, Hermann Mascher
Published 2013-01-01