Prevalent mutations in fatty acid oxidation disorders: Diagnostic considerations

European Journal of Pediatrics, Supplement

Volumn 159, Issue 3, 2000, Pages

  Gregersen, N ^a   Andresen, B S ^a   Bross, P ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Fatty acid oxidation defects; Medium chain acyl CoA dehydrogenase deficiency; Mutation analysis; Short chain acyl CoA dehydrogenase deficiency; Susceptibility gene variations

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ALANINE; CARNITINE PALMITOYLTRANSFERASE; GLYCINE; MALONIC ACID DERIVATIVE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; OXIDOREDUCTASE;

ACIDURIA; AMINO ACID SUBSTITUTION; CONFERENCE PAPER; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOTE DETECTION; METABOLIC DISORDER; MITOCHONDRION; MUTATION RATE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034434590     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/pl00014406     Document Type: Conference Paper

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