Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts

J Inherit Metab Dis. 1988:11 Suppl 2:229-32. doi: 10.1007/BF01804243.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cholesterol / biosynthesis
  • Cholesterol / metabolism*
  • Fibroblasts / metabolism
  • Humans
  • Metabolism, Inborn Errors / metabolism*
  • Mevalonic Acid / urine*
  • Phosphotransferases (Alcohol Group Acceptor)*
  • Phosphotransferases / deficiency*

Substances

  • Cholesterol
  • Phosphotransferases
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Mevalonic Acid