Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders

por Hoegen, Brechtje, Hampstead, Juliet E., Engelke, Udo F.H., Kulkarni, Purva, Wevers, Ron A., Brunner, Han G., Coene, Karlien L. M., Gilissen, Christian
Publicado 2022

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity

por Tinnevelt, Gerjen H., Engelke, Udo F.H., Wevers, Ron A., Veenhuis, Stefanie, Willemsen, Michel A., Coene, Karlien L.M., Kulkarni, Purva, Jansen, Jeroen J.
Publicado 2020

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy

por Martens, Jonathan, Berden, Giel, Bentlage, Herman, Coene, Karlien L. M., Engelke, Udo F., Wishart, David, van Scherpenzeel, Monique, Kluijtmans, Leo A. J., Wevers, Ron A., Oomens, Jos
Publicado 2018

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

por Graham Linck, Emma J., Richmond, Phillip A., Tarailo-Graovac, Maja, Engelke, Udo, Kluijtmans, Leo A. J., Coene, Karlien L. M., Wevers, Ron A., Wasserman, Wyeth, van Karnebeek, Clara D. M., Mostafavi, Sara
Publicado 2020

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

por 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.
Publicado 2020

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

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

por Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., de Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.
Publicado 2020

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

por Hagemeijer, Marne C., Oussoren, Esmee, Ruijter, George J. G., Onkenhout, Willem, Huidekoper, Hidde H., Ebberink, Merel S., Waterham, Hans R., Ferdinandusse, Sacha, de Vries, Maaike C., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Coene, Karlien L. M., Blom, Henk J
Publicado 2021

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

por Hoegen, Brechtje, Zammit, Alan, Gerritsen, Albert, Engelke, Udo F. H., Castelein, Steven, van de Vorst, Maartje, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Wevers, Ron A., van Gool, Alain J., Gilissen, Christian, Coene, Karlien L. M., Kulkarni, Purva
Publicado 2021

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

Metabolite Identification Using Infrared Ion Spectroscopy—Novel Biomarkers for Pyridoxine-Dependent Epilepsy

por van Outersterp, Rianne E., Engelke, Udo F.H., Merx, Jona, Berden, Giel, Paul, Mathias, Thomulka, Thomas, Berkessel, Albrecht, Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Mecinović, Jasmin, Rutjes, Floris P.J.T., van Karnebeek, Clara D.M., Wevers, Ron A., Boltje, Thomas J., Coene, Karlien L.M., Martens, Jonathan, Oomens, Jos
Publicado 2021

Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism

por van Outersterp, Rianne E., Kooijman, Pieter C., Merx, Jona, Engelke, Udo F.H., Omidikia, Nematollah, Tonneijck, Mei-Lan H., Houthuijs, Kas J., Berden, Giel, Peters, Tessa M.A., Lefeber, Dirk J., Willemsen, Michel A. A. P., Mecinovic, Jasmin, Jansen, Jeroen J., Coene, Karlien L.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan
Publicado 2023

Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia

por Veenhuis, Stefanie J.G., van Os, Nienke J.H., Janssen, Anjo J.W.M., van Gerven, Marjo H.J.C., Coene, Karlien L.M., Engelke, Udo. F.H., Wevers, Ron A., Tinnevelt, Gerjen H., ter Heine, Rob, van de Warrenburg, Bart P.C., Weemaes, Corry M.R., Roeleveld, Nel, Willemsen, Michèl A.A.P.
Publicado 2021

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

por 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
Publicado 2021

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

por Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, de Boer, Siebolt, van Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., van Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.
Publicado 2022

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

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

por Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., van der Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., van de Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., van Karnebeek, Clara D. M.
Publicado 2022

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

por den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., van Karnebeek, Clara D. M.
Publicado 2021

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

por Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen, Letteboer, Stef J.F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko, Maher, Eamonn R., Guay-Woodford, Lisa, Neumann, Hartmut P.H., Obermüller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu, Lewis, Richard A., Katsanis, Nicholas, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Mónica Bettencourt, Zhang, Xinmin, Nürnberg, Gudrun, Nürnberg, Peter, Pierce, Eric, Jackson, Peter, Antignac, Corinne, Saunier, Sophie, Roepman, Ronald, Dollfus, Helene, Khanna, Hemant, Hildebrandt, Friedhelm
Publicado 2010