Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy , dysmorphic features, and hepatic dysfunction

摘要

Aim: MOGS mutations cause congenital disorders of glycosylation type IIb (CDG-IIb or GCS1-CDG). The specific manifestations caused by the mutations in this gene remain unknown. We aimed to describe the clinical features of CDGIIb and the effectiveness of urinary oligosaccharide analysis in the diagnosis of CDGIIb.