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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Vydáno v:J Inherit Metab Dis
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Netherlands 2018
Témata:
Metabolomics
On-line přístup: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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