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

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...

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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2011
Fag:
CDG - an update
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137782/
https://ncbi.nlm.nih.gov/pubmed/21431619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9311-y
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