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; Lüchtenborg, Christian; Brecht, Ines B.; Falb, Ruth; Gauck, Darja; Haack, Tobias; Hecker, Andreas; Himmelreich, Nastassja; Okun, Jürgen G.; et al. (Human mutation, 2025)
Online veröffentlicht: 26. Juni 2025