Fatal cerebral edema associated with serine deficiency in CSF

por 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.
Publicado 2010

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

por 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
Publicado 2018

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

por 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.
Publicado 2021

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

por 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.
Publicado 2016

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II

por 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.
Publicado 2022

Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS

por 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.
Publicado 2020

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

por 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.
Publicado 2018

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

por Coene, Karlien L. M., Timmer, Corrie, Goorden, Susan M. I., ten 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, van Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C. D. G.
Publicado 2020