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…

Damage to the areas of the brain that are responsible for higher visual processing can lead to severe cerebral visual impairment (CVI). The prognosis for higher cognitive visual functions in children with CVI is not well described. We therefore present our six-year follow-up of a boy with CVI and highlight intervention approaches that have proved…