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 patients have reduced incorporation of mannose into glycoproteins which can be corrected by adding D-mannose to the culture...
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