Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism
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
Published in Journal of inherited metabolic disease (01.05.2018)
Published in Journal of inherited metabolic disease (01.05.2018)
Get full text
Journal Article
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism
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.
Published in Journal of inherited metabolic disease (01.09.2021)
Published in Journal of inherited metabolic disease (01.09.2021)
Get full text
Journal Article
Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS
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.
Published in Scientific reports (09.07.2020)
Published in Scientific reports (09.07.2020)
Get full text
Journal Article
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
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.
Published in Communications biology (21.09.2022)
Published in Communications biology (21.09.2022)
Get full text
Journal Article
Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation
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.
Published in JIMD reports (01.03.2021)
Published in JIMD reports (01.03.2021)
Get full text
Journal Article
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
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
Published in Orphanet journal of rare diseases (29.06.2016)
Published in Orphanet journal of rare diseases (29.06.2016)
Get full text
Journal Article
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, FrancJan, Körver-Keularts, Irene, Rubio-Gozalbo, M. Estela, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R.
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
Get full text
Journal Article
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Ferreira, Elise A., Veenvliet, Annemarijne R.J., Engelke, Udo F.H., Kluijtmans, Leo A.J., Huigen, Marleen C.D.G., Hoegen, Brechtje, de Boer, Lonneke, de Vries, Maaike C., van Bon, Bregje W., Leenders, Erika, Cornelissen, Elisabeth A.M., Haaxma, Charlotte A., Schieving, Jolanda H., Rubio-Gozalbo, M. Estela, Körver-Keularts, Irene M.L.W., Marten, Lara M., Diegmann, Susann, Mourmans, Jeroen, Rennings, Alexander J.M., van Karnebeek, Clara D.M., Rodenburg, Richard J., Coene, Karlien L.M.
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
Get full text
Journal Article