ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Eva Morava*, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot Mulder, Estela Rubio-Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida V. D. Schwartz, Andrew Green, Mohammed Al-Owain, Graciella Uziel, Sabine Sigaudy, Brigitte Chabrol, Franc-Jan van Spronsen, Martin SteinertEleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)713-723
JournalJournal of Inherited Metabolic Disease
Volume39
Issue number5
DOIs
Publication statusPublished - Sep 2016

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