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Direct linkWolfe, Lynne A.; Krasnewich, Donna – Developmental Disabilities Research Reviews, 2013
The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…
Descriptors: Mental Retardation, Congenital Impairments, Metabolism, Comorbidity
Sight-Saving Review, 1974
Presented for opthalmologists is basic information about the prevention and management of hereditary eye disease through prenatal diagnosis and genetic counseling. (LH)
Descriptors: Congenital Impairments, Diseases, Etiology, Exceptional Child Services
