Carbohydrate-deficient glycoprotein syndromes: the Italian experience

J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977.
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Congenital Disorders of Glycosylation / blood
  • Congenital Disorders of Glycosylation / enzymology
  • Congenital Disorders of Glycosylation / genetics
  • Congenital Disorders of Glycosylation / physiopathology*
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / enzymology
  • Humans
  • Italy
  • Leukocytes / cytology
  • Leukocytes / enzymology
  • Male
  • Mutagenesis
  • Phosphotransferases (Phosphomutases) / deficiency*
  • Phosphotransferases (Phosphomutases) / genetics
  • Phosphotransferases (Phosphomutases) / metabolism
  • Transferrin / analysis

Substances

  • Transferrin
  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase