Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Lignende værker

• Carbohydrate deficient glycoprotein (CDG) syndrome type I.
  af: Jaeken, J, et al.
  Udgivet: (1997)
• Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.
  af: Tan, J., et al.
  Udgivet: (1996)
• Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
  af: Jaeken, J, et al.
  Udgivet: (1998)
• A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
  af: Burda, P, et al.
  Udgivet: (1998)
• Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.
  af: Fiumara, A, et al.
  Udgivet: (1994)