SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient

Autor: Johnsen, Christin, Tabatadze, Nazi, Radenkovic, Silvia, Botzo, Grace, Kuschel, Bryce, Melikishvili, Gia, Morava, Eva
Zdroj: In Molecular Genetics and Metabolism July 2024 142(3)
Databáze: ScienceDirect