Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

J Inherit Metab Dis. 1998 Jun;21(3):243-6. doi: 10.1023/a:1005359920675.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / urine
  • Child
  • Chorion / enzymology
  • Feasibility Studies
  • Female
  • Glutarates / urine*
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Male
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • 3-hydroxyglutaric acid
  • Glutarates
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase