
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)
Keywords: AT III، آنتی ترومبین III; AT III, Antithrombin III; CDG, Congenital disorders of glycosylation; CDG-Ia, Congenital disorders of glycosylation type Ia; CDT, Carbohydrate-deficient transferrin; ER, Endoplasmatic reticulum; Glc, Glucose; GlcNAc, N-acetylglucosamine; IEF, Isoelectric