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[Two cases of familial cerebrotendinous xanthomatosis--intrahepatic enzyme assay and therapeutic trial with chenodeoxycholic acid]

AuthorsS Orimo, T Kobayashi, T Furukawa, H Tsukagoshi, I Kano
JournalRinshō shinkeigaku = Clinical neurology (Rinsho Shinkeigaku) Vol. 24 Issue 1 Pg. 38-44 (Jan 1984) ISSN: 0009-918X JAPAN
PMID6467736 (Publication Type: Case Reports, English Abstract, Journal Article)
Chemical References
  • Chenodeoxycholic Acid
  • CYP27A1 protein, human
  • Cytochrome P-450 CYP27A1
  • Steroid Hydroxylases
Topics
  • Adult
  • Brain Diseases (drug therapy, genetics)
  • Chenodeoxycholic Acid (therapeutic use)
  • Cytochrome P-450 CYP27A1
  • Humans
  • Liver (enzymology)
  • Male
  • Steroid Hydroxylases (deficiency)
  • Tendons
  • Xanthomatosis (drug therapy, enzymology, genetics)