Central nervous system malformations in ethylmalonic encephalopathy

American Journal of Medical Genetics

Volumn 75, Issue 3, 1998, Pages 292-296

  Nowaczyk, M J M ^a,b   Blaser, S I ^a   Clarke, J T R ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

2 methyl branched chain acylCoA dehydrogenase; Chiari I malformation; Ethylmalonic encephalopathy; Short chain acylCoA dehydrogenase; Tethered cord

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; MALONIC ACID; N ETHYLMALEIMIDE;

ACIDURIA; ARTICLE; BRAIN DISEASE; BRAIN MALFORMATION; CASE REPORT; CHIARI FROMMEL SYNDROME; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ENZYME DEFECT; FEMALE; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINAL CORD MALFORMATION; TETHERED CORD SYNDROME;

EID: 0032559321     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980123)75:3<292::AID-AJMG13>3.0.CO;2-K     Document Type: Article

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