A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Carbohydrate-deficient glycoprotein syndromes (CDGS) type I are a group of genetic diseases characterized by a deficiency of N-linked protein glycosylation in the endoplasmic reticulum. The majority of these CDGS patients have phosphomannomutase (PMM) deficiency (type A). This enzyme is required for...

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Main Authors: Burda, P, Borsig, L, de Rijk-van Andel, J, Wevers, R, Jaeken, J, Carchon, H, Berger, E G, Aebi, M
Format: Artigo
Sprog:Inglês
Udgivet: 1998
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC508925/
https://ncbi.nlm.nih.gov/pubmed/9710431
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