Prenatal diagnosis of atypical phenylketonuria

J Inherit Metab Dis. 1989:12 Suppl 2:295-8. doi: 10.1007/BF03335403.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amniocentesis*
  • Amniotic Fluid / analysis
  • Biomarkers / analysis
  • Chromatography, High Pressure Liquid / methods
  • Female
  • Genetic Carrier Screening
  • Homovanillic Acid / analysis*
  • Homozygote
  • Humans
  • Hydroxyindoleacetic Acid / analysis*
  • Phenylketonurias / diagnosis*
  • Phenylketonurias / genetics
  • Pregnancy

Substances

  • Biomarkers
  • Hydroxyindoleacetic Acid
  • Homovanillic Acid