Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: Evolution after prenatal diagnosis and prompt management

Journal of Pediatrics

Volumn 131, Issue 3, 1997, Pages 444-446

  Sluysmans, T ^a   Tuerlinckx, D ^a   Hubinont, C ^a   Verellen Dumoulin, C ^a   Brivet, M ^a   Vianey Saban, C ^a  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; DICARBOXYLIC ACID;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHILD; ENZYME DEFECT; FEMALE; HUMAN; MALE; METABOLIC ACIDOSIS; PHYSICAL EXAMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; TREATMENT PLANNING;

EID: 0030657403     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)80073-X     Document Type: Article

References (12)

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3. Brivet M Slama A Saudubray JM Legrand A Lemonnier A Rapid diagnosis of long-chain and medium-chain fatty acid oxidation disorders using lymphocytes Ann Clin Biochem 32 1995 164 169
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10. Vianey-Saban C Bertrand C Largilliere C Baumgartner R Rolland MO Divry P Identification of mitochondrial very long chain acyl-CoA dehydrogenase deficiency in two patients Enzyme Protein 47 1993 5
11. Aoyama T Soun M Ushikubo S Kamijo T Yamaguchi S Kelley RI Purification of human very-long-chain acyl-coenzyme A and characterization of its deficiency in seven patients J Clin Invest 95 1995 2465 2473
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