Neurocognitive phenotype of isolated methylmalonic acidemia

Pediatrics

Volumn 129, Issue 6, 2012, Pages

  O'Shea, Colin J ^a   Sloan, Jennifer L ^b   Wiggs, Edythe A ^c   Pao, Maryland ^a   Gropman, Andrea ^b,e   Baker, Eva H ^d   Manoli, Irini ^b   Venditti, Charles P ^b   Snow, Joseph ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Basal ganglia; Cognition; FSIQ; Hyperammonemia; IQ; Methylmalonic acidemia; MMA; Neuropsychology

Indexed keywords

COBAMAMIDE; METHYLMALONIC ACID;

ADOLESCENT; ADULT; ARTICLE; BASAL GANGLION; CHILD; CLINICAL ARTICLE; COGNITION; COHORT ANALYSIS; CONTROLLED STUDY; HUMAN; HYPERAMMONEMIA; METHYLMALONIC ACIDEMIA; MOLECULAR GENETICS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NEUROPSYCHOLOGY; NUTRITIONAL STATUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; COHORT STUDIES; EPILEPSY; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; YOUNG ADULT;

EID: 84861917594     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2011-1715     Document Type: Article

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