dolichol-monophosphate has been researched along with Syndrome* in 1 studies
1 other study(ies) available for dolichol-monophosphate and Syndrome
Article | Year |
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Major defect of carbohydrate-deficient-glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol.
The contents of dolichyl phosphate and UDP-N-acetylglucosamine:dolichyl phosphate N-acetylglucosamine 1-phosphate transferase (GlcNAc-1-P transferase) activity in fibroblasts from patients with carbohydrate-deficient-glycoprotein (CDG) syndrome were analyzed. The amount of dolichyl phosphate and GlcNAc-1-P transferase activity in CDG syndrome fibroblasts were similar to those in normal fibroblasts, suggesting that CDG syndrome may not be due to a deficiency of a biosynthetic enzyme for dolichol-oligosaccharide intermediates, but to a metabolic error in assembly of asparagine-linked oligosaccharide. Topics: Carbohydrate Metabolism, Inborn Errors; Cells, Cultured; Dolichol Phosphates; Fibroblasts; Glycoproteins; Glycosylation; Humans; Oligosaccharides; Polyisoprenyl Phosphate Monosaccharides; Skin; Syndrome; Transferases (Other Substituted Phosphate Groups) | 1994 |