Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles

di Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, van der Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.
Pubblicato in J Inherit Metab Dis (2020)

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

di van Outersterp, Rianne E., Moons, Sam J., Engelke, Udo F. H., Bentlage, Herman, Peters, Tessa M. A., van Rooij, Arno, Huigen, Marleen C. D. G., de Boer, Siebolt, van der Heeft, Ed, Kluijtmans, Leo A. J., van Karnebeek, Clara D. M., Wevers, Ron A., Berden, Giel, Oomens, Jos, Boltje, Thomas J., Coene, Karlien L. M., Martens, Jonathan
Pubblicato in Commun Biol (2021)

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

di 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.
Pubblicato in J Inherit Metab Dis (2018)