Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism

Ann Intern Med. 1971 Dec;75(6):843-51. doi: 10.7326/0003-4819-75-6-843.
No abstract available

MeSH terms

  • Achilles Tendon / analysis
  • Adult
  • Autopsy
  • Bile / analysis
  • Bile Acids and Salts / metabolism*
  • Brain Chemistry
  • Brain Diseases / genetics
  • Brain Diseases / metabolism*
  • Cholestanes / analysis
  • Cholestanes / blood
  • Cholestanes / metabolism*
  • Cholesterol / analysis
  • Cholesterol / blood
  • Erythrocytes / analysis
  • Female
  • Humans
  • Liver / metabolism*
  • Lung / analysis
  • Male
  • Middle Aged
  • Muscular Diseases / genetics
  • Muscular Diseases / metabolism*
  • Pedigree
  • Skin / analysis
  • Sterols / analysis
  • Sterols / biosynthesis*
  • Tendons*
  • Xanthomatosis / genetics
  • Xanthomatosis / metabolism*

Substances

  • Bile Acids and Salts
  • Cholestanes
  • Sterols
  • Cholesterol