Prenatal diagnosis of the organic acidurias

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Prenatal diagnosis for the genetic counselling of families at risk for having children with the life-threatening organic acidurias is advancing rapidly. The two major approaches to prenatal diagnosis are the assay for deficient activity of the enzymes in cultured amniocytes and the measurement of increased concentrations of the organic acids in the amniotic fluid. The latter, when done by stable isotope dilution analysis, is rapid, relatively inexpensive and very reliable.

Original languageEnglish (US)
Pages (from-to)18-22
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume7
Issue number1 Supplement
DOIs
StatePublished - Mar 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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