Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

Eva Morava, Julia Vodopiutz, Dirk J. Lefeber, Andreas R. Janecke, Wolfgang M. Schmidt, Silvia Lechner, Chike B. Item, Jolanta Sykut-Cegielska, Maciej Adamowicz, Jolanta Wierzba, Zong H. Zhang, Ivana Mihalek, Sylvia Stockler, Olaf A. Bodamer, Ludwig Lehle, Ron A. Wevers

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