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Wolfe, 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
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Fazzi, Elisa; Signorini, Sabrina G.; La Piana, Roberta; Bertone, Chiara; Misefari, Walter; Galli, Jessica; Balottin, Umberto; Bianchi, Paolo Emilio – Developmental Medicine & Child Neurology, 2012
Aim: Cerebral visual impairment (CVI) is a disorder caused by damage to the retrogeniculate visual pathways. Cerebral palsy (CP) and CVI share a common origin: 60 to 70% of children with CP also have CVI. We set out to describe visual dysfunction in children with CP. A further aim was to establish whether different types of CP are associated with…
Descriptors: Investigations, Visual Impairments, Cerebral Palsy, Psychiatry
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Breakey, Arnold Stewart; And Others – Journal of Nervous and Mental Disease, 1974
The relationships between specific aspects of peripheral ocular defects and perceptual deficits were investigated in a cerebral palsied population of 60 spastics, 60 athetoids, and 60 non-neurologically impaired Ss, 7 to 21 years of age. (Author/MC)
Descriptors: Adolescents, Cerebral Palsy, Children, Exceptional Child Research