Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Objective Our report describes clinical, genetic, and biochemical features of participants with
a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers …
a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers …