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.

dc.contributor.author	Bevot, Andrea
dc.date.accessioned	2019-01-15T09:00:41Z
dc.date.available	2019-01-15T09:00:41Z
dc.date.issued	2016
dc.identifier.issn	1573-2665
dc.identifier.uri	http://hdl.handle.net/10900/85632
dc.language.iso	en	de_DE
dc.publisher	Springer	de_DE
dc.relation.uri	http://dx.doi.org/10.1007/s10545-016-9945-x	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies	de_DE
dc.type	Article	de_DE
utue.quellen.id	20180405102126_01491
utue.publikation.seiten	713-723	de_DE
utue.personen.roh	Morava, Eva
utue.personen.roh	Tiemes, Vera
utue.personen.roh	Thiel, Christian
utue.personen.roh	Seta, Nathalie
utue.personen.roh	de Lonlay, Pascale
utue.personen.roh	de Klerk, Hans
utue.personen.roh	Mulder, Margot
utue.personen.roh	Rubio-Gozalbo, Estela
utue.personen.roh	Visser, Gepke
utue.personen.roh	van Hasselt, Peter
utue.personen.roh	Horovitz, Dafne D. G.
utue.personen.roh	Moura de Souza, Carolina Fischinger
utue.personen.roh	Schwartz, Ida V. D.
utue.personen.roh	Green, Andrew
utue.personen.roh	Al-Owain, Mohammed
utue.personen.roh	Uziel, Graciella
utue.personen.roh	Sigaudy, Sabine
utue.personen.roh	Chabrol, Brigitte
utue.personen.roh	van Spronsen, Franc-Jan
utue.personen.roh	Steinert, Martin
utue.personen.roh	Komini, Eleni
utue.personen.roh	Wurm, Donald
utue.personen.roh	Bevot, Andrea
utue.personen.roh	Ayadi, Addelkarim
utue.personen.roh	Huijben, Karin
utue.personen.roh	Dercksen, Marli
utue.personen.roh	Witters, Peter
utue.personen.roh	Jaeken, Jaak
utue.personen.roh	Matthijs, Gert
utue.personen.roh	Lefeber, Dirk J.
utue.personen.roh	Wevers, Ron A.
dcterms.isPartOf.ZSTitelID	Journal of Inherited Metabolic Disease	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	39	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE