Di- and trihydroxycholestanaemia in twin sisters

J Inherit Metab Dis. 1991;14(3):357-60. doi: 10.1007/BF01811702.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bile Acids and Salts / blood
  • Cholestanols / blood*
  • Coenzyme A Ligases / metabolism
  • Diseases in Twins*
  • Fatty Acids / blood
  • Female
  • Humans
  • Infant
  • Liver / enzymology
  • Microbodies / enzymology
  • Microbodies / metabolism*
  • Oxidoreductases / metabolism

Substances

  • Bile Acids and Salts
  • Cholestanols
  • Fatty Acids
  • Oxidoreductases
  • trihydroxycholestanoyl-CoA oxidase
  • 3,7,12-trihydroxy-5-cholestanoyl CoA ligase
  • Coenzyme A Ligases