The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

Hoertnagel, Konstanze; Kraegeloh-Mann, Inge; Bornemann, Antje; Doecker, Miriam; Biskup, Saskia; Mayrhofer, Heidi; Battke, Florian; du Bois, Gabriele; Harzer, Klaus

dc.contributor.author	Bornemann, Antje
dc.contributor.author	Biskup, Saskia
dc.contributor.author	Mayrhofer, Heidi
dc.contributor.author	Harzer, Klaus
dc.contributor.author	Krägeloh-Mann, Ingeborg
dc.date.accessioned	2018-08-29T15:33:08Z
dc.date.available	2018-08-29T15:33:08Z
dc.date.issued	2016
dc.identifier.issn	1573-2665
dc.identifier.uri	http://hdl.handle.net/10900/83947
dc.language.iso	en	de_DE
dc.publisher	Springer	de_DE
dc.relation.uri	http://dx.doi.org/10.1007/s10545-016-9961-x	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement	de_DE
dc.type	Article	de_DE
utue.quellen.id	20180405102126_00622
utue.publikation.seiten	849-857	de_DE
utue.personen.roh	Hoertnagel, Konstanze
utue.personen.roh	Kraegeloh-Mann, Inge
utue.personen.roh	Bornemann, Antje
utue.personen.roh	Doecker, Miriam
utue.personen.roh	Biskup, Saskia
utue.personen.roh	Mayrhofer, Heidi
utue.personen.roh	Battke, Florian
utue.personen.roh	du Bois, Gabriele
utue.personen.roh	Harzer, Klaus
dcterms.isPartOf.ZSTitelID	Journal of Inherited Metabolic Disease	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	39	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE