
Key features and clinical variability of COG6-CDG
Keywords: پروتئین دلبستگی NSF محلول است; ALP; alkaline phosphatase; αFP; alpha fetoprotein; ASD; atrial septum defect; BAEP; auditory evoked brain stem potential; CDG; congenital disorder(s) of glycosylation; CHO; Chinese hamster ovary; CK; creatine kinase; CMV; cytomegalovirus; COG; conserved