Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

Brain and Development

Volumn 21, Issue 4, 1999, Pages 260-263

  Barone, Rita ^a   Pavone, Lorenzo ^a   Fiumara, Agata ^a   Bianchini, Rio ^a   Jaeken, Jaak ^b  

^a Division of Pediatric Neurology   (Italy)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Carbohydrate deficient; Glycoconjugaie syndrome; Neuropsychological assessment; Phosphomannomutase deficiency

Indexed keywords

PHOSPHOMANNOMUTASE;

ADOLESCENT; ADULT; AMNESIA; ARTICLE; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CEREBELLUM; CHILD; COGNITION; CONGENITAL DISORDER OF GLYCOSYLATION; DEPTH PERCEPTION; ENZYME DEFICIENCY; EYE HAND COORDINATION; FAMILY LIFE; HUMAN; INTERPERSONAL COMMUNICATION; LANGUAGE DISABILITY; MENTAL DEFICIENCY; NEUROPSYCHOLOGICAL TEST; OLIVOPONTOCEREBELLAR ATROPHY; PERCEPTION DISORDER; PSYCHOMOTOR DEVELOPMENT; SELF HELP; WALKING AID;

EID: 0032991120     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(99)00020-0     Document Type: Article

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