Molecular identification in metabolomics using infrared ion spectroscopy

por Martens, Jonathan, Berden, Giel, van Outersterp, Rianne E., Kluijtmans, Leo A. J., Engelke, Udo F., van Karnebeek, Clara D. M., Wevers, Ron A., Oomens, Jos
Publicado 2017

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

A comparison of high-throughput plasma NMR protocols for comparative untargeted metabolomics

por Bliziotis, Nikolaos G., Engelke, Udo F. H., Aspers, Ruud L. E. G., Engel, Jasper, Deinum, Jaap, Timmers, Henri J. L. M., Wevers, Ron A., Kluijtmans, Leo A. J.
Publicado 2020

Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data

por Bongaerts, Michiel, Kulkarni, Purva, Zammit, Alan, Bonte, Ramon, Kluijtmans, Leo A. J., Blom, Henk J., Engelke, Udo F. H., Tax, David M. J., Ruijter, George J. G., Reinders, Marcel J. T.
Publicado 2023

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

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

por Graham, Emma, Lee, Jessica, Price, Magda, Tarailo-Graovac, Maja, Matthews, Allison, Engelke, Udo, Tang, Jeffrey, Kluijtmans, Leo A. J., Wevers, Ron A., Wasserman, Wyeth W., van Karnebeek, Clara D. M., Mostafavi, Sara
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

Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon

por Kortman, Guus A. M., Dutilh, Bas E., Maathuis, Annet J. H., Engelke, Udo F., Boekhorst, Jos, Keegan, Kevin P., Nielsen, Fiona G. G., Betley, Jason, Weir, Jacqueline C., Kingsbury, Zoya, Kluijtmans, Leo A. J., Swinkels, Dorine W., Venema, Koen, Tjalsma, Harold
Publicado 2016

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

por Václavík, Jan, Mádrová, Lucie, Kouřil, Štěpán, de Sousa, Julie, Brumarová, Radana, Janečková, Hana, Jáčová, Jaroslava, Friedecký, David, Knapková, Mária, Kluijtmans, Leo A. J., Grünert, Sarah C., Vaz, Frédéric M., Janzen, Nils, Wanders, Ronald J. A., Wevers, Ron A., Adam, Tomáš
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

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

por Wortmann, Saskia B., Chen, Margaret A., Colombo, Roberto, Pontoglio, Alessandro, Alhaddad, Bader, Botto, Lorenzo D., Yuzyuk, Tatiana, Coughlin, Curtis R., Descartes, Maria, Grűnewald, Stephanie, Maranda, Bruno, Mills, Philippa B., Pitt, James, Potente, Catherine, Rodenburg, Richard, Kluijtmans, Leo A. J., Sampath, Srirangan, Pai, Emil F., Wevers, Ron A., Tiller, George E.
Publicado 2017

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

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

por Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Publicado 2007

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

por Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain‐van der Velden, Monique, Schielen, Peter C. J. I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A. J., Mulder, Margot F., Rubio‐Gozalbo, M. E., van Spronsen, Francjan J., Visser, Gepke, de Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M.
Publicado 2020

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

Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma

por Bliziotis, Nikolaos G., Kluijtmans, Leo A. J., Soto, Sebastian, Tinnevelt, Gerjen H., Langton, Katharina, Robledo, Mercedes, Pamporaki, Christina, Engelke, Udo F. H., Erlic, Zoran, Engel, Jasper, Deutschbein, Timo, Nölting, Svenja, Prejbisz, Aleksander, Richter, Susan, Prehn, Cornelia, Adamski, Jerzy, Januszewicz, Andrzej, Reincke, Martin, Fassnacht, Martin, Eisenhofer, Graeme, Beuschlein, Felix, Kroiss, Matthias, Wevers, Ron A., Jansen, Jeroen J., Deinum, Jaap, Timmers, Henri J. L. M.
Publicado 2021

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echoc...

por Veenvliet, Annemarijne R.J., Garrelfs, Mark R., Udink ten Cate, Floris E.A., Ferdinandusse, Sacha, Denis, Simone, Fuchs, Sabine A., Schwantje, Marit, Geurtzen, Rosa, van Wegberg, Annemiek M.J., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Wanders, Ronald J.A., Derks, Terry G.J., de Boer, Lonneke, Houtkooper, Riekelt H., de Vries, Maaike C., van Karnebeek, Clara D.M.
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