Paediatric cerebrotendinous xanthomatosis

J Inherit Metab Dis. 1992;15(3):374-6. doi: 10.1007/BF02435980.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cataract / urine
  • Child
  • Cholestanols / urine*
  • Female
  • Humans
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / urine*
  • Xanthomatosis / urine*

Substances

  • Cholestanols