@article{6227ed84e1c84d62ba8419f589c9bb77,
title = "A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.",
keywords = "GDP-L-FUCOSE, CONGENITAL DISORDER, CRYSTAL-STRUCTURE, O-FUCOSYLATION, DEFICIENCY, NOTCH, EXPRESSION, MUTATIONS, MICE, IDENTIFICATION",
author = "Ren{\'e} Feichtinger and Andreas H{\"u}llen and Andreas Koller and Dieter Kotzot and Valerian Grote and Erdmann Rapp and Peter Hofbauer and Karin Brugger and Christian Thiel and Mayr, \{Johannes A.\} and Saskia Wortmann",
note = "Feichtinger; Brugger; Mayr; Wortmann: University Children{\textquoteright}s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria; Koller, A: Research Program for Experimental Ophthalmology, Department of Ophthalmology and Optometry, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria; Kotzot: Clinical Genetics Unit, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria; Hofbauer: Department of Production, Landesapotheke Salzburg, Hospital Pharmacy, Salzburg, Austria: Department of Production, Landesapotheke Salzburg, Hospital Pharmacy, Salzburg, Austria",
year = "2021",
doi = "10.15252/emmm.202114332",
language = "English",
volume = "13",
pages = "e14332",
journal = "EMBO MOLECULAR MEDICINE",
issn = "1757-4676",
number = "9",
}