Mevalonic aciduria

J Inherit Metab Dis. 1991;14(2):265-6. doi: 10.1007/BF01800602.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Magnetic Resonance Spectroscopy
  • Mevalonic Acid / urine*
  • Phosphotransferases (Alcohol Group Acceptor)*
  • Phosphotransferases / deficiency*

Substances

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