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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Clin Chem |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2015
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| Θέματα: | |
| Διαθέσιμο Online: | 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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