2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: A case report

Journal of Medical Case Reports

Volumn 1, Issue , 2007, Pages

  Kanavin, Oivind J ^a   Woldseth, Berit ^b   Jellum, Egil ^b   Tvedt, Bjorn ^a   Andresen, Brage S ^c,d   Stromme, Petter ^a,e  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d AARHUS UNIVERSITY   (Denmark)

^e UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ANTICONVULSIVE AGENT; BUTYRYL COENZYME A DEHYDROGENASE; GUANINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTISM; CASE REPORT; CHILD BEHAVIOR; CHILD DEVELOPMENT; DISEASE ASSOCIATION; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; INTRON; MALE; MENTAL DEFICIENCY; NEUROPSYCHOLOGICAL TEST; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN RESTRICTION; PSYCHOMETRY; SCORING SYSTEM; SEIZURE; SEQUENCE ANALYSIS; SOMALIA; TANDEM MASS SPECTROMETRY; TREATMENT FAILURE; URINARY EXCRETION;

EID: 44949172514     PISSN: 17521947     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/1752-1947-1-98     Document Type: Article

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