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

por Abumansour, Iman S., Yuskiv, Nataliya, Paschke, Eduard, Stockler‐Ipsiroglu, Sylvia
Publicado 2019

Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy

por Gaggl, Martina, Lajic, Natalija, Heinze, Georg, Voigtländer, Till, Sunder-Plassmann, Raute, Paschke, Eduard, Fauler, Günter, Sunder-Plassmann, Gere, Mundigler, Gerald
Publicado 2016

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

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

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

por Lukas, Jan, Torras, Joan, Navarro, Itziar, Giese, Anne-Katrin, Böttcher, Tobias, Mascher, Hermann, Lackner, Karl J., Fauler, Guenter, Paschke, Eduard, Cruzado, Josep M., Dudesek, Ales, Wittstock, Matthias, Meyer, Wolfgang, Rolfs, Arndt
Publicado 2012

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

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

Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine

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