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A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

✍ Scribed by T.J. de Koning; L. Dorland; O.P. van Diggelen; A.M.C. Boonman; G.J. de Jong; W.L. van Noort; Jear De Schryver; M. Duran; I.E.T. van den Berg; G.J. Gerwig; R. Berger; B.T. Poll-The


Book ID
115581863
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
141 KB
Volume
245
Category
Article
ISSN
0006-291X

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Defects in the assembly of dolichol-linked oligosaccharide or its transfer to proteins result in severe, multi-system human diseases called Type I congenital disorders of glycosylation. We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-