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

DSpace Repository

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

Author: Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio-Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; Moura de Souza, Carolina Fischinger; Schwartz, Ida V. D.; Green, Andrew; Al-Owain, Mohammed; Uziel, Graciella; Sigaudy, Sabine; Chabrol, Brigitte; van Spronsen, Franc-Jan; Steinert, Martin; Komini, Eleni; Wurm, Donald; Bevot, Andrea; Ayadi, Addelkarim; Huijben, Karin; Dercksen, Marli; Witters, Peter; Jaeken, Jaak; Matthijs, Gert; Lefeber, Dirk J.; Wevers, Ron A.
Tübinger Autor(en):
Bevot, Andrea
Published in: Journal of Inherited Metabolic Disease (2016), Bd. 39, H. 5, S. 713-723
Verlagsangabe: Springer
Language: English
Full text: http://dx.doi.org/10.1007/s10545-016-9945-x
ISSN: 1573-2665
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
Show full item record

This item appears in the following Collection(s)