A new variant of the carbohydrate deficient glycoproteins syndrome

J Inherit Metab Dis. 1991;14(3):385-8. doi: 10.1007/BF01811710.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / metabolism*
  • Carbohydrate Metabolism, Inborn Errors / pathology
  • Electromyography
  • Evoked Potentials / physiology
  • Female
  • Galactosemias / blood
  • Glycoproteins / blood
  • Glycoproteins / metabolism*
  • Hexosamines / blood
  • Humans
  • Infant
  • Isoelectric Focusing
  • Liver / pathology
  • Magnetic Resonance Imaging
  • Mannose / blood
  • Sialic Acids / blood
  • Transferrin / metabolism

Substances

  • Glycoproteins
  • Hexosamines
  • Sialic Acids
  • Transferrin
  • Mannose