Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

This publication has 29 references indexed in Scilit:

• The Cerebrohepatorenal (Zellweger) Syndrome
  New England Journal of Medicine, 1984
• General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1983
• Dicarboxylic Aciduria: Deficient [1- ¹⁴ C]Octanoate Oxidation and Medium-Chain Acyl-CoA Dehydrogenase in Fibroblasts
  Science, 1983
• The analysis of plasma and urinary organic acids during prolonged fasting differentiates between systemic carnitine deficiency and a defect of fatty acid oxidation
  Journal of Inherited Metabolic Disease, 1983
• In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1982
• Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
  The Journal of Pediatrics, 1981
• Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's Syndrome
  New England Journal of Medicine, 1980
• Gas chromatography of urinary N-phenylacetylglutamine
  Journal of Chromatography B: Biomedical Sciences and Applications, 1979
• Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase
  The Journal of Pediatrics, 1979
• Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1976