Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

CT Lam, F Scaglia, GT Berry, A Larson… - Molecular Genetics and …, 2024 - Elsevier
Objective Our report describes clinical, genetic, and biochemical features of participants with
a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers …