Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

J Inherit Metab Dis. 1997 Jul;20(3):391-4. doi: 10.1023/a:1005394315300.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Female
  • Humans
  • Lymphocytes / drug effects
  • Lymphocytes / enzymology
  • Mevalonic Acid / blood
  • Mevalonic Acid / urine*
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Pregnancy
  • Twins, Dizygotic

Substances

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