Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria

J Inherit Metab Dis. 1993;16(5):872-5. doi: 10.1007/BF00714281.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amniotic Fluid / chemistry*
  • Chromatography, High Pressure Liquid
  • Female
  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnosis*
  • Orotate Phosphoribosyltransferase / deficiency
  • Orotic Acid / urine*
  • Orotidine-5'-Phosphate Decarboxylase / deficiency
  • Pregnancy
  • Prenatal Diagnosis*
  • Pyrimidines / analysis*

Substances

  • Pyrimidines
  • Orotic Acid
  • Orotate Phosphoribosyltransferase
  • Orotidine-5'-Phosphate Decarboxylase