Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls by van Ginkel, Willem G, Jahja, Rianne, Huijbregts, Stephan C J, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, Körver-Keularts, Irene M L W, Goyens, Philippe J, McKiernan, Patrick J, van Spronsen, Francjan J

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Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism by Körver-Keularts, Irene M. L. W., Wang, Ping, Waterval, Huub W. A. H., Kluijtmans, Leo A. J., Wevers, Ron A., Langhans, Claus-Dieter, Scott, Camilla, Habets, Daphna D. J., Bierau, Jörgen

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Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS by Swieringa, Frauke, Solari, Fiorella A., Pagel, Oliver, Beck, Florian, Huang, Jingnan, Feijge, Marion A. H., Jurk, Kerstin, Körver-Keularts, Irene M. L. W., Mattheij, Nadine J. A., Faber, Jörg, Pohlenz, Joachim, Russo, Alexandra, Stumpel, Connie T. R. M., Schrander, Dirk E., Zieger, Barbara, van der Meijden, Paola E. J., Zahedi, René P., Sickmann, Albert, Heemskerk, Johan W. M.

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Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II by Merx, Jona, van Outersterp, Rianne E., Engelke, Udo F. H., Hendriks, Veronique, Wevers, Ron A., Huigen, Marleen C. D. G., Waterval, Huub W. A. H., Körver-Keularts, Irene M. L. W., Mecinović, Jasmin, Rutjes, Floris P. J. T., Oomens, Jos, Coene, Karlien L. M., Martens, Jonathan, Boltje, Thomas J.

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

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Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation by Coene, Karlien L. M., Timmer, Corrie, Goorden, Susan M. I., Hoedt, Amber E., Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rennings, Alexander J. M., Prinsen, Hubertus C. M. T., Wamelink, Mirjam M. C., Ruijter, George J. G., Körver‐Keularts, Irene M. L. W., Heiner‐Fokkema, M. Rebecca, Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C. D. G.

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Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism by Steinbusch, Laura K.M., Wang, Ping, Waterval, Huub W.A.H., Stassen, Fons A.P.M., Coene, Karlien L.M., Engelke, Udo F.H., Habets, Daphna D.J., Bierau, Jörgen, Körver‐Keularts, Irene M.L.W.

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Fatal cerebral edema associated with serine deficiency in CSF by Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, de Koning, Tom J., Verhoeven-Duif, Nanda M.

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Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome by Halbach, Nicky S. J., Smeets, Eric E. J., Bierau, Jörgen, Keularts, Irene M. L. W., Plasqui, Guy, Julu, Peter O. O., Engerström, Ingegerd Witt, Bakker, Jaap A., Curfs, Leopold M. G.

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Detection and identification of low-concentration M proteins with CZE/IS; a 'dry' analysis by Keularts, Irene M L W, Beunis, Marlene H, van Oord, John, Janssen, Johannes W

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α2A-Adrenergic Receptor Stimulation Potentiates Calcium Release in Platelets by Modulating cAMP Levels by Irene M. L. W. Keularts, Roosje M. A. van Gorp, Marion A. H. Feijge, Wim M. J. Vuist, Johan W. M. Heemskerk

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