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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Publié dans:	J Clin Invest
Auteurs principaux:	Burda, P, Borsig, L, de Rijk-van Andel, J, Wevers, R, Jaeken, J, Carchon, H, Berger, E G, Aebi, M
Format:	Artigo
Langue:	Inglês
Publié:	American Society for Clinical Investigation 1998
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC508925/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9710431/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI2266
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