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European Journal of Pediatrics

Volumn 149, Issue 8, 1990, Pages 577-581

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: Report of two siblings

(8) Catzeflis, C a Bachmann, C b Hale, D E c Coates, P M c Wiesmann, U d Colombo, J P d Joris, F e Deleze G a

a Hopital de Sion (Switzerland)

b UNIVERSITY OF LAUSANNE (Switzerland)

c CHILDREN S HOSPITAL OF PHILADELPHIA (United States)

d UNIVERSITY OF BERN (Switzerland)

e Mid Valais Hospital Center (Switzerland)

Author keywords

Fatty acid oxidation; Medium chain acyl CoA dehydrogenase deficiency; Organic aciduria; sudden infant death syndrome

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ARGININE; CARBOXYLIC ACID; CARNITINE; GLUCOSE;

ACIDURIA; ARTICLE; AUTOPSY; CASE REPORT; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FATALITY; FATTY ACID OXIDATION; HISTOLOGY; HUMAN; INTRAVENOUS DRUG ADMINISTRATION; NEWBORN; PRIORITY JOURNAL; SUDDEN INFANT DEATH SYNDROME;

ACID-BASE EQUILIBRIUM; ACUTE DISEASE; AGE FACTORS; AMMONIA; CARNITINE; FATTY ACID DESATURASES; FATTY ACIDS; FEMALE; FIBROBLASTS; HUMAN; INFANT, NEWBORN; LIVER; MALE; METABOLISM, INBORN ERRORS; PROSPECTIVE STUDIES;

EID: 0025302523 PISSN: 03406199 EISSN: 14321076 Source Type: Journal
DOI: 10.1007/BF01957697 Document Type: Article

Times cited : (30)

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