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

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.

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

Autor(en):

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

Erschienen in:

Journal of Inherited Metabolic Disease (2016), Bd. 39, H. 5, S. 713-723

Verlagsangabe:

Springer

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1007/s10545-016-9945-x

ISSN:

1573-2665