Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency

J Inherit Metab Dis. 2006 Feb;29(1):241. doi: 10.1007/s10545-006-0198-y.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Allopurinol / blood*
  • Carrier State
  • Data Interpretation, Statistical
  • Genetic Carrier Screening / methods*
  • Heterozygote
  • Humans
  • Models, Statistical
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Allopurinol