Article
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.
Acta paediatrica (Oslo, Norway : 1992) - 1 Aug 1998
Kjaergaard S, Kristiansson B, Stibler H, Freeze H H, Schwartz M, Martinsson T, Skovby F
Abstract excerpt
Carbohydrate-deficient glycoprotein syndrome type 1A (CDGS1A) is an inherited disorder with multisystemic abnormalities resulting from failure to generate sufficient lipid-linked oligosaccharide precursor or to transfer the sugar chain to many glycoproteins. Cultured fibroblasts from these patien...
Topics
- Adolescent
- Blood Chemical Analysis
- Blotting, Western
- Child
- Child, Preschool
- Congenital Disorders of Glycosylation
- Dietary Supplements
- Female
- Glycoproteins
- Humans
- Infant
- Male
- Mannose
- Mutation
- Treatment Failure