Clinical and biochemical findings in six patients with pyrimidine degradation defects

J Inherit Metab Dis. 1994;17(1):130-2. doi: 10.1007/BF00735416.
No abstract available

MeSH terms

  • Amidohydrolases / deficiency*
  • Amino Acids / urine
  • Chromatography, High Pressure Liquid
  • Chromatography, Thin Layer
  • Dihydrouracil Dehydrogenase (NADP)
  • Epilepsy / etiology
  • Humans
  • Intellectual Disability / etiology
  • Oxidoreductases / deficiency*
  • Purine-Pyrimidine Metabolism, Inborn Errors / complications
  • Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
  • Purine-Pyrimidine Metabolism, Inborn Errors / metabolism*
  • Pyrimidines / urine

Substances

  • Amino Acids
  • Pyrimidines
  • Oxidoreductases
  • Dihydrouracil Dehydrogenase (NADP)
  • Amidohydrolases
  • dihydropyrimidinase