Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

by Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler‐Ipsiroglu
Published 2020-01-01

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed Allele

by Julia Jecel MD, Klaus Harzer MD, Eduard Paschke MD, Stefanie Beck-Wödl PhD, Peter Bauer MD, Milos Hejtman MD, Regina Katzenschlager MD
Published 2015-11-01

Potent GH20 N-Acetyl-β-d-hexosaminidase Inhibitors: N-Substituted 3-acetamido-4-amino-5-hydroxymethyl-cyclopentanediols

by Patrick Weber, Seyed A. Nasseri, Bettina M. Pabst, Ana Torvisco, Philipp Müller, Eduard Paschke, Marion Tschernutter, Werner Windischhofer, Stephen G. Withers, Tanja M. Wrodnigg, Arnold E. Stütz
Published 2018-03-01

Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors

by Georg Schitter, Elisabeth Scheucher, Andreas J. Steiner, Arnold E. Stütz, Martin Thonhofer, Chris A. Tarling, Stephen G. Withers, Jacqueline Wicki, Katrin Fantur, Eduard Paschke, Don J. Mahuran, Brigitte A. Rigat, Michael Tropak, Tanja M. Wrodnigg
Published 2010-03-01

Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and <i>C</i>-5a-Substituted Derivatives of 4-<i>epi</i...

by Patrick Weber, Martin Thonhofer, Summer Averill, Gideon J. Davies, Andres Gonzalez Santana, Philipp Müller, Seyed A. Nasseri, Wendy A. Offen, Bettina M. Pabst, Eduard Paschke, Michael Schalli, Ana Torvisco, Marion Tschernutter, Christina Tysoe, Werner Windischhofer, Stephen G. Withers, Andreas Wolfsgruber, Tanja M. Wrodnigg, Arnold E. Stütz
Published 2020-09-01