Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria

J Inherit Metab Dis. 1997 Jul;20(3):339-42. doi: 10.1023/a:1005309423960.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Amidohydrolases / genetics
  • Chromatography, High Pressure Liquid
  • Evoked Potentials, Auditory, Brain Stem / physiology
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Liver / chemistry
  • Liver / enzymology
  • Pyrimidines / urine*

Substances

  • Pyrimidines
  • Amidohydrolases
  • dihydropyrimidinase