Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids

J Inherit Metab Dis. 1992;15(3):381-4. doi: 10.1007/BF02435982.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bile Acids and Salts / metabolism*
  • Fatty Acids / blood
  • Fatty Acids / metabolism*
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Immunoblotting
  • Infant, Newborn
  • Liver / ultrastructure
  • Male
  • Microbodies / metabolism*
  • Oxidation-Reduction
  • Phenotype*
  • Zellweger Syndrome / metabolism*

Substances

  • Bile Acids and Salts
  • Fatty Acids