B3GALT6-congenital disorder of glycosylation
B3GALT6-congenital disorder of glycosylation
Definition
Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6.
Also known as B3GALT6-CDG, B3GALT6-congenital disorder of glycosylation, B3GALT6-related congenital disorder of glycosylation — per MONDO