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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
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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
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