The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

J Inherit Metab Dis. 1994;17(1):133-4. doi: 10.1007/BF00735417.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Allopurinol*
  • Chromatography, High Pressure Liquid
  • Female
  • Genetic Carrier Screening*
  • Humans
  • Middle Aged
  • Ornithine Carbamoyltransferase / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Orotic Acid / urine
  • Uridine / analogs & derivatives
  • Uridine / urine

Substances

  • Orotic Acid
  • Allopurinol
  • orotidine
  • Ornithine Carbamoyltransferase
  • Uridine