Carnitine-acylcarnitine translocase deficiency: Metabolic consequences of an impaired mitochondrial carnitine cycle

Clinica Chimica Acta

Volumn 298, Issue 1-2, 2000, Pages 55-68

  Röschinger, Wulf ^a   Muntau, Ania C ^a   Duran, Marinus ^b   Dorland, Lambertus ^b   IJlst, Lodewijk ^c   Wanders, Ronald J A ^c   Roscher, Adelbert A ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Carnitine deficiency; Carnitine acylcarnitine translocase; Fatty acid oxidation; Hyperammonemia; Neonatal coma; Prenatal diagnosis

Indexed keywords

ACYLCARNITINE; ACYLCARNITINE CARNITINE TRANSLOCASE; CARNITINE; DICARBOXYLIC ACID; MITOCHONDRIAL ENZYME; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; BLOOD LEVEL; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CASE REPORT; CELL CULTURE; CHORION VILLUS; COMA; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; FIBROBLAST; GENETIC COUNSELING; GRAND MAL SEIZURE; HEART FAILURE; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; LABORATORY TEST; LACTIC ACIDEMIA; METABOLIC DISORDER; MITOCHONDRIAL RESPIRATION; NEWBORN; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REYE SYNDROME;

AMMONIA; CARDIAC OUTPUT, LOW; CARNITINE; CARNITINE ACYLTRANSFERASES; CELLS, CULTURED; COMA; CONSANGUINITY; DICARBOXYLIC ACIDS; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; HYPOGLYCEMIA; INFANT, NEWBORN; LACTIC ACID; MASS SPECTROMETRY; MITOCHONDRIA; PREGNANCY; SEIZURES; URIC ACID;

EID: 0034256982     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(00)00268-0     Document Type: Article

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