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- W1981732075 abstract "Almost all proteins that are secreted or membrane bound, as well as many others, have carbohydrate side-chains (glycans) that are essential for their normal activity. N–linked glycans have a branched structure with many variations. The synthesis of oligosaccharides, their transfer to the nascent polypeptide chain, and subsequent modification to produce the mature glycans require a complex pathway of at least 40 steps. Defects of this pathway (congenital disorders of glycosylation, CDG) were first identified by studying changes in transferrin, which normally has two glycans with four sialic acid residues. Any change in the number of residues can be detected in the pattern of isoelectric focusing (IEF). This investigation is now supplemented by analysis of other proteins, enzymology, and molecular genetic studies. Two main CDG groups are recognised. Type 1 (CDG Ia–e) concerns the synthesis and transfer of the carbohydrate chain. The commonest is caused by deficiency of phosphomannomutase. 1 Van Schaftingen E Jaeken J Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 1995; 377: 318-320 Summary Full Text PDF PubMed Scopus (310) Google Scholar In type II, defects in the processing of the carbohydrate chains have been found, and three causes have been identified so far. There remain many patients with CDG of unknown cause, CDG-x." @default.
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- W1981732075 date "2001-05-01" @default.
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- W1981732075 title "Diversity of congenital disorders of glycosylation" @default.
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- W1981732075 doi "https://doi.org/10.1016/s0140-6736(00)04618-3" @default.
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