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Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc(2) is a biomarker of ALG1-CDG

ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. The initial step in the investigation for these disorders involves the demonstration of h...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Bengtson, Per, Ng, Bobby G., Jaeken, Jaak, Matthijs, Gert, Freeze, Hudson H., Eklund, Erik A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4822552/
https://ncbi.nlm.nih.gov/pubmed/26335155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9884-y
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