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Clinical glycomics for the diagnosis of congenital disorders of glycosylation

Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy develo...

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Bibliografiske detaljer
Udgivet i:J Inherit Metab Dis
Main Authors: Abu Bakar, Nurulamin, Lefeber, Dirk J., van Scherpenzeel, Monique
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5959975/
https://ncbi.nlm.nih.gov/pubmed/29497882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-018-0144-9
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