Research & Innovation
Publications

A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.

#2021

#EMBO MOLECULAR MEDICINE

PMU Authors
René Feichtinger, Andreas Koller, Dieter Kotzot, Johannes A. Mayr, Saskia Wortmann

All Authors
René Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes A. Mayr, Saskia Wortmann

Journal association
EMBO MOLECULAR MEDICINE

Abstract

Keywords

EXPRESSION, IDENTIFICATION, CRYSTAL-STRUCTURE, MUTATIONS, MICE, DEFICIENCY, GDP-L-FUCOSE, CONGENITAL DISORDER, O-FUCOSYLATION, NOTCH

Latest Publication

#2025

#Abstract

Valentin Fischill-Neudeck, Antje van der Zee-Neuen, Margitta B. Beil-Hildebrand Strengthening Professional Health Literacy: A Theory-Based Approach to Empower Nursing Practice

#2025

#Original Article

Margaux Delporte, Johan Verbeeck, Isabella Brambilla, Georg Zimmermann, Geert Molenberghs, Rima Nabbout, Dravet syndrome, REGISTRY; RARE DISEASES; DRAVET SYNDROME; Natural history;

#2025

#Short comment / notes

J. Koch, K. Steinbruecker, G. Kluger, S. Knasmueller, E. Trinka Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study, EPILEPSY; Drug Resistance; Automated spike detection;

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Paracelsus Medical University (PMU) Research & Innovation Publications

A spoonful of L-fucose-an efficient therapy for...