Late onset Krabbe disease due to the new GALC p.A1a543Pro mutation, with intriguingly high residual GALC activity in vitro

Harzer, Klaus; Bornemann, Antje; Bevot, Andrea; Beck, Verena; Merkel, Gisela; Pechan, Maria; Krägeloh-Mann, Ingeborg; Beck-Wödl, Stefanie; Rostásy, Kevin; Böhringer, Judith

dc.contributor.author	Harzer, Klaus
dc.contributor.author	Bornemann, Antje
dc.contributor.author	Bevot, Andrea
dc.contributor.author	Beck, Verena
dc.contributor.author	Merkel, Gisela
dc.contributor.author	Pechan, Maria
dc.contributor.author	Krägeloh-Mann, Ingeborg
dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Böhringer, Judith
dc.date.accessioned	2018-01-17T12:05:11Z
dc.date.available	2018-01-17T12:05:11Z
dc.date.issued	2017
dc.identifier.issn	1532-2130
dc.identifier.uri	http://hdl.handle.net/10900/79822
dc.language.iso	en	de_DE
dc.publisher	Oxford (u.a.) : Elsevier	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ejpn.2016.12.012	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	610	de_DE
dc.title	Late onset Krabbe disease due to the new GALC p.A1a543Pro mutation, with intriguingly high residual GALC activity in vitro	de_DE
dc.type	Article	de_DE
utue.quellen.id	20170815222223_00923
utue.publikation.seiten	522-529	de_DE
utue.personen.roh	Harzer, Klaus
utue.personen.roh	Bornemann, Antje
utue.personen.roh	Bevot, Andrea
utue.personen.roh	Beck, Verena
utue.personen.roh	Merkel, Gisela
utue.personen.roh	Pechan, Maria
utue.personen.roh	Krägeloh-Mann, Ingeborg
utue.personen.roh	Beck-Wödl, Stefanie
utue.personen.roh	Rostásy, Kevin
utue.personen.roh	Böhringer, Judith
dcterms.isPartOf.ZSTitelID	European Journal of Paediatric Neurology	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	21	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE