Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2021-11-09T12:35:34Z
dc.date.available	2021-11-09T12:35:34Z
dc.date.issued	2021
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/120598
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2021.04.017	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210824232002_00797
utue.publikation.seiten	1151-1160	de_DE
utue.personen.roh	Morava, Eva
utue.personen.roh	Schatz, Ulrich A.
utue.personen.roh	Torring, Pernille M.
utue.personen.roh	Abbott, Mary-Alice
utue.personen.roh	Baumann, Matthias
utue.personen.roh	Brasch-Andersen, Charlotte
utue.personen.roh	Chevalier, Nathalie
utue.personen.roh	Dunkhase-Heinl, Ulrike
utue.personen.roh	Fleger, Martin
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Nelson, Stephen
utue.personen.roh	Potelle, Sven
utue.personen.roh	Radenkovic, Silvia
utue.personen.roh	Bommer, Guido T.
utue.personen.roh	Van Schaftingen, Emile
utue.personen.roh	Veiga-da-Cunha, Maria
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	108	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE