Secondary respiratory chain defect in a boy with long-chain 3- hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls

European Journal of Pediatrics

Volumn 159, Issue 4, 2000, Pages 243-246

  Das, A M ^a   Fingerhut, R ^a   Wanders, R J A ^a,b   Ullrich, K ^a  

^a UNIVERSITY OF HAMBURG   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Fatty acid oxidation; LCHAD deficiency; Mitochondria; Mitochondriopathy

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; 3 HYDROXYBUTYRIC ACID; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CYTOCHROME C OXIDASE; GAMMA GLUTAMYLTRANSFERASE; LACTIC ACID; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; PYRUVIC ACID;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INHIBITION; FATTY ACID OXIDATION; FEVER; FIBROBLAST; GASTROINTESTINAL INFECTION; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LIVER DYSFUNCTION; MALE; MICROCEPHALY; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE;

EID: 0034085995     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050063     Document Type: Article

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