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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2011
Materias:
CDG - an update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137782/
https://www.ncbi.nlm.nih.gov/pubmed/21431619
http://dx.doi.org/10.1007/s10545-011-9311-y

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