Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Ítems similars

• Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
  per: Niehues, R, et al.
  Publicat: (1998)
• Carbohydrate deficient glycoprotein (CDG) syndrome type I.
  per: Jaeken, J, et al.
  Publicat: (1997)
• Clinical utility gene card for: Phosphomannose isomerase deficiency
  per: Jaeken, Jaak, et al.
  Publicat: (2014)
• Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
  per: Matthijs, G, et al.
  Publicat: (1998)
• Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
  per: Jaeken, J, et al.
  Publicat: (1994)