Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Gelijkaardige items

• Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
  door: Jaeken, J, et al.
  Gepubliceerd in: (1994)
• Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.
  door: Fiumara, A, et al.
  Gepubliceerd in: (1994)
• Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
  door: Jaeken, J, et al.
  Gepubliceerd in: (1998)
• Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
  door: Matthijs, G, et al.
  Gepubliceerd in: (1998)
• A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
  door: Burda, P, et al.
  Gepubliceerd in: (1998)