GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing

Mensch, Alexander; Cordts, Isabell; Scholle, Leila; Joshi, Pushpa Raj; Kleeberg, Kathleen; Emmer, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Stoltenburg-Didinger, Gisela; Zierz, Stephan; Deschauer, Marcus

dc.contributor.author	Park, Joohyun
dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-02-27T11:04:22Z
dc.date.available	2023-02-27T11:04:22Z
dc.date.issued	2022
dc.identifier.issn	2214-3599
dc.identifier.uri	http://hdl.handle.net/10900/136933
dc.language.iso	en	de_DE
dc.publisher	Ios Press	de_DE
dc.relation.uri	http://dx.doi.org/10.3233/JND-220822	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_02621
utue.publikation.seiten	533-541	de_DE
utue.personen.roh	Mensch, Alexander
utue.personen.roh	Cordts, Isabell
utue.personen.roh	Scholle, Leila
utue.personen.roh	Joshi, Pushpa Raj
utue.personen.roh	Kleeberg, Kathleen
utue.personen.roh	Emmer, Alexander
utue.personen.roh	Beck-Woedl, Stefanie
utue.personen.roh	Park, Joohyun
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Stoltenburg-Didinger, Gisela
utue.personen.roh	Zierz, Stephan
utue.personen.roh	Deschauer, Marcus
dcterms.isPartOf.ZSTitelID	Journal of Neuromuscular Diseases	de_DE
dcterms.isPartOf.ZS-Issue	4	de_DE
dcterms.isPartOf.ZS-Volume	9	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE