Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Christina LamFernando ScagliaGerard T BerryAustin LarsonKyriakie SarafoglouHans C AnderssonEvgenia SklirouQueenie K G TanRodrigo T StarostaMustafa SadekLynne WolfeSeishu HorikoshiMay AliRita BaroneTeresa CampbellIrene J ChangKiaira ColesEdward CookErik A EklundNicole M EngelhardtMary FreemanJennifer FriedmanDebbie Y T FuGrace BotzoBrandy RawlsChristien HernandezChristin JohnsenKierstin KellerSara KramerBryce KuschelAngela LeshinskiIvan Martinez-DunckerGina L MazzaSaadet Mercimek-AndrewsBradley S MillerKarthik MuthusamyJuanita NeiraMarc C PattersonNatalie PogorelcLex N PowersElizabeth RameyMichaela ReinhartAudrey SquireJenny ThiesJerry VockleyHayden VreugdenhilPeter WittersMehdi YoubiAziza ZeighamiRoni ZemetAndrew C EdmondsonEva MoravaPublished in: Molecular genetics and metabolism (2024)
The FCDGC Natural History Study serves as an important resource to build future research studies, improve clinical care, and prepare for clinical trial readiness. Herein is the first overview of CDG participants of the FCDGC Natural History Study.