A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers

Falkenstein, Kristina; Hoeren, Lukas; Kikul, Frauke; Poschet, Gernot; Luechtenborg, Christian; Brecht, Ines B.; Falb, Ruth; Gauck, Darja; Haack, Tobias; Hecker, Andreas; Himmelreich, Nastassja; Okun, Juergen G.; Bruegger, Britta; Thiel, Christian

dc.contributor.author	Brecht, Ines B.
dc.contributor.author	Falb, Ruth
dc.contributor.author	Gauck, Darja
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2026-04-08T11:25:51Z
dc.date.available	2026-04-08T11:25:51Z
dc.date.issued	2025
dc.identifier.issn	1059-7794
dc.identifier.uri	http://hdl.handle.net/10900/178057
dc.language.iso	en	de_DE
dc.publisher	Hoboken : Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1155/humu/6290620	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers	de_DE
dc.type	Article	de_DE
utue.quellen.id	20251118000000_04156
utue.publikation.seiten	Article ID 6290620	de_DE
utue.personen.roh	Falkenstein, Kristina
utue.personen.roh	Hoeren, Lukas
utue.personen.roh	Kikul, Frauke
utue.personen.roh	Poschet, Gernot
utue.personen.roh	Luechtenborg, Christian
utue.personen.roh	Brecht, Ines B.
utue.personen.roh	Falb, Ruth
utue.personen.roh	Gauck, Darja
utue.personen.roh	Haack, Tobias
utue.personen.roh	Hecker, Andreas
utue.personen.roh	Himmelreich, Nastassja
utue.personen.roh	Okun, Juergen G.
utue.personen.roh	Bruegger, Britta
utue.personen.roh	Thiel, Christian
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	2025	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE