Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: Early-onset necrotizing encephalopathy with lethal outcome

Journal of Inherited Metabolic Disease

Volumn 28, Issue 2, 2005, Pages 229-233

  Baykal, T ^a   Gokcay, G Huner ^a   Ince, Z ^a   Dantas, M F ^b   Fowler, B ^b   Baumgartner, M R ^c   Demir, F ^a   Can, G ^a   Demirkol, M ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARNITINE; ISOVALERIC ACID; METHYLCROTONOYL COENZYME A CARBOXYLASE;

ARTICLE; BLOOD ANALYSIS; BRAIN ATROPHY; BRAIN DISEASE; BRAIN VENTRICLE DILATATION; CASE REPORT; CELL CULTURE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DRUG MEGADOSE; ECHOENCEPHALOGRAPHY; ENCEPHALOMALACIA; ENZYME ANALYSIS; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; INFANT; LETHALITY; MALE; METHYLCROTONYL COENZYME A CARBOXYLASE DEFICIENCY; MORTALITY; MUTATIONAL ANALYSIS; ONSET AGE; OUTCOMES RESEARCH; PROTEIN RESTRICTION; TANDEM MASS SPECTROMETRY; TURKEY (REPUBLIC); URINARY EXCRETION;

EID: 19444363671     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-4559-8     Document Type: Article

References (7)

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2. Baumgartner MR, Almashanu S, Suormala T, et al (2001) The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 107: 495-504.
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