Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis

Prenat Diagn. 2008 May;28(5):460-2. doi: 10.1002/pd.2002.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amniotic Fluid / chemistry*
  • Female
  • Heptoses / metabolism
  • Humans
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / metabolism
  • Pregnancy
  • Prenatal Diagnosis*
  • Ribitol / metabolism
  • Transaldolase / deficiency*

Substances

  • Heptoses
  • sedoheptulose
  • Ribitol
  • Transaldolase