Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

European Journal of Pediatrics

Volumn 157, Issue 4, 1998, Pages 317-320

  Ribes, A ^a   Riudor, E ^b   Garavaglia, B ^c   Martinez, G ^a   Arranz, A ^b   Invernizzi, F ^c   Briones, P ^a   Lamantea, E ^c   Sentis M ^b   Barcelo A ^a   Roig, M ^b  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Ethylmalonic aciduria; Mitochondrial fatty acid oxidation; Short chain acyl CoA dehydrogenase deficiency

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FATTY ACID METABOLISM; FEMALE; HUMAN; INFANT; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; PRIORITY JOURNAL; TWINS; UNCONSCIOUSNESS;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DISEASES IN TWINS; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; HUMANS; INFANT; MALONATES; TWINS, MONOZYGOTIC;

EID: 7144263747     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050819     Document Type: Article

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