PMM2-CDG: Phenotype and genotype in four affected family members
Keywords: N-گلیکوزیلت; CDG, Congenital disorders of glycosylation; PMM2, phosphomannomutase 2; ALG6, alpha-1,3-glucosyltransferase; CDT, carbohydrate-deficient transferrinPMM2-CDG; Mutation; Phenotype-genotype correlation; ALG6; N-glycosylation