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

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

Author: 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
Tübinger Autor(en):
Brecht, Ines B.
Falb, Ruth
Gauck, Darja
Haack, Tobias
Published in: Human Mutation (2025), Bd. 2025, H. 1Article ID 6290620
Verlagsangabe: Hoboken : Wiley
Language: English
Full text: http://dx.doi.org/10.1155/humu/6290620
ISSN: 1059-7794
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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