Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to analyze a limited amount of metabolites. We now...

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Detaylı Bibliyografya
Yayımlandı:J Inherit Metab Dis
Asıl Yazarlar: Coene, Karlien L. M., Kluijtmans, Leo A. J., van der Heeft, Ed, Engelke, Udo F. H., de Boer, Siebolt, Hoegen, Brechtje, Kwast, Hanneke J. T., van de Vorst, Maartje, Huigen, Marleen C. D. G., Keularts, Irene M. L. W., Schreuder, Michiel F., van Karnebeek, Clara D. M., Wortmann, Saskia B., de Vries, Maaike C., Janssen, Mirian C. H., Gilissen, Christian, Engel, Jasper, Wevers, Ron A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Netherlands 2018
Konular:
Metabolomics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5959972/
https://ncbi.nlm.nih.gov/pubmed/29453510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0131-6
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