Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy by Körver-Keularts, I. M. L. W., de Visser, M., Bakker, H. D., Wanders, R. J. A., Vansenne, F., Scholte, H. R., Dorland, L., Nicolaes, G. A. F., Spaapen, L. M. J., Smeets, H. J. M., Hendrickx, A. T. M., van den Bosch, B. J. C.

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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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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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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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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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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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