Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally

Pediatr Neurol. 1994 Jul;11(1):71. doi: 10.1016/0887-8994(94)90097-3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chorionic Villi Sampling
  • Diseases in Twins / diagnosis
  • Diseases in Twins / genetics*
  • Failure to Thrive / blood
  • Failure to Thrive / genetics
  • Glycoproteins / blood
  • Glycoproteins / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Predictive Value of Tests
  • Prenatal Diagnosis*
  • Syndrome
  • Transferrin / analogs & derivatives
  • Transferrin / genetics
  • Transferrin / metabolism
  • alpha-Fetoproteins / genetics
  • alpha-Fetoproteins / metabolism

Substances

  • Glycoproteins
  • Transferrin
  • alpha-Fetoproteins
  • carbohydrate-deficient transferrin