Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Hardies, Katia; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Asselbergh, Bob; Geuens, Thomas; Deconinck, Tine; Azmi, Abdelkrim; May, Patrick; Brilstra, Eva; Becker, Felicitas; Barisic, Nina; Craiu, Dana; Braun, Kees P. J.; Lal, Dennis; Thiele, Holger; Schubert, Julian; Weber, Yvonne; van't Slot, Ruben; Nuernberg, Peter; Balling, Rudi; Timmerman, Vincent; Lerche, Holger; Maudsley, Stuart; Helbig, Ingo; Suls, Arvid; Koeleman, Bobby P. C.; De Jonghe, Peter

dc.contributor.author	Becker, Felicitas
dc.contributor.author	Schubert, Julian
dc.contributor.author	Weber, Yvonne G.
dc.contributor.author	Lerche, Holger
dc.date.accessioned	2016-06-28T12:51:08Z
dc.date.available	2016-06-28T12:51:08Z
dc.date.issued	2015
dc.identifier.issn	1460-2156
dc.identifier.uri	http://hdl.handle.net/10900/70792
dc.language.iso	en	en
dc.publisher	Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awv263
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	610	de_DE
dc.subject.ddc	570	de_DE
dc.title	Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20160427062602_00572
utue.personen.roh	Hardies, Katia
utue.personen.roh	de Kovel, Carolien G. F.
utue.personen.roh	Weckhuysen, Sarah
utue.personen.roh	Asselbergh, Bob
utue.personen.roh	Geuens, Thomas
utue.personen.roh	Deconinck, Tine
utue.personen.roh	Azmi, Abdelkrim
utue.personen.roh	May, Patrick
utue.personen.roh	Brilstra, Eva
utue.personen.roh	Becker, Felicitas
utue.personen.roh	Barisic, Nina
utue.personen.roh	Craiu, Dana
utue.personen.roh	Braun, Kees P. J.
utue.personen.roh	Lal, Dennis
utue.personen.roh	Thiele, Holger
utue.personen.roh	Schubert, Julian
utue.personen.roh	Weber, Yvonne
utue.personen.roh	van't Slot, Ruben
utue.personen.roh	Nuernberg, Peter
utue.personen.roh	Balling, Rudi
utue.personen.roh	Timmerman, Vincent
utue.personen.roh	Lerche, Holger
utue.personen.roh	Maudsley, Stuart
utue.personen.roh	Helbig, Ingo
utue.personen.roh	Suls, Arvid
utue.personen.roh	Koeleman, Bobby P. C.
utue.personen.roh	De Jonghe, Peter
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Volume	138	de_DE
utue.fakultaet	04 Medizinische Fakultät