The prenatal diagnosis of congenital disorders of glycosylation (CDG)

Prenat Diagn. 2004 Feb;24(2):114-6. doi: 10.1002/pd.815.
No abstract available

Publication types

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

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / diagnosis*
  • Carbohydrate Metabolism, Inborn Errors / etiology
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Glucosyltransferases / deficiency
  • Glucosyltransferases / genetics
  • Glycoproteins / metabolism*
  • Glycosylation
  • Humans
  • Mannose-6-Phosphate Isomerase / deficiency
  • Mannose-6-Phosphate Isomerase / genetics
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics
  • Mutation
  • Phosphotransferases (Phosphomutases) / deficiency
  • Phosphotransferases (Phosphomutases) / genetics
  • Prenatal Diagnosis*

Substances

  • Glycoproteins
  • Membrane Proteins
  • Glucosyltransferases
  • dolichyl pyrophosphate Man(9)GlcNAc(2) alpha1,3-glucosyltransferase
  • Mannose-6-Phosphate Isomerase
  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase