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Article

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

Journal of inherited metabolic disease - 1 Aug 2011

Guillard Mailys, Wada Yoshinao, Hansikova Hana, Yuasa Isao, Vesela Katerina, Ondruskova Nina, Kadoya Machiko, Janssen Alice, Van den Heuvel Lambertus P W J, Morava Eva, Zeman Jiri, Wevers Ron A, Lefeber Dirk J

Abstract excerpt

Congenital disorders of glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of protein N-glycosylation. On the basis of the IEF profile, patients can be grouped into CDG type I or CDG type II. Several protein variants of transferrin are known...

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Identifiers

PMID: 21431619
DOI: 10.1007/s10545-011-9311-y
PMCID: PMC3137782

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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