A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Phosphomannose Isomerase Deficiencies

BACKGROUND: Primary deficiencies in mannosylation of N-glycans are seen in a majority of patients with congenital disorders of glycosylation (CDG). We report the discovery of a series of novel N-glycans in sera, plasma, and cultured skin fibroblasts from patients with CDG having deficient mannosylat...

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Опубликовано в: :Clin Chem
Главные авторы: Zhang, Wenyue, James, Philip M., Ng, Bobby G., Li, Xueli, Xia, Baoyun, Rong, Jiang, Asif, Ghazia, Raymond, Kimiyo, Jones, Melanie A., Hegde, Madhuri, Ju, Tongzhong, Cummings, Richard D., Clarkson, Katie, Wood, Tim, Boerkoel, Cornelius F., Freeze, Hudson H., He, Miao
Формат: Artigo
Язык:Inglês
Опубликовано: 2015
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4819965/
https://ncbi.nlm.nih.gov/pubmed/26430078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2015.243279
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