@article{f57a78eb7948464cb1c1245de87ab2ff,
title = "Congenital disorders of glycosylation with defective fucosylation.",
keywords = "L-FUCOSE, SHORT STATURE, MUTATIONS, CDG, BIOSYNTHESIS, EXPRESSION, INSIGHTS, CLONING, POFUT1",
author = "Andreas H{\"u}llen and Kristina Falkenstein and Corina Weigel and Hidde Huidekoper and Nora Naumann-Bartsch and Johannes Spenger and Ren{\'e} Feichtinger and Jacqueline Schaefers and Stephanie Frenz and Daniel Kotlarz and Tooba Momen and Razieh Khoshnevisan and Riedhammer, {Korbinian M} and Ren{\'e} Santer and Theresia Herget and Alexander Rennings and Lefeber, {Dirk J} and Mayr, {Johannes A.} and Christian Thiel and Saskia Wortmann",
note = "Spenger; Feichtinger; Mayr; Wortmann: University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.",
year = "2021",
doi = "10.1002/jimd.12426",
language = "English",
volume = "44",
pages = "1441--1452",
journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",
issn = "0141-8955",
publisher = "Wiley Verlag ",
number = "6",
}