Works by Kluijtmans, Leo A. J.

Results: 34

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

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.668640

By:

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

Publication type:

Article

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

Published in:

NMR in Biomedicine, 2009, v. 22, n. 5, p. 538, doi. 10.1002/nbm.1367

By:

Engelke, Udo F. H.;
Tassini, Maria;
Hayek, Joseph;
de Vries, Maaike;
Bilos, Appie;
Vivi, Antonio;
Valensin, Gianni;
Buoni, Sabrina;
Zannolli, Raffaella;
Brussel, Wim;
Kremer, Berry;
Salomons, Gajja S.;
Veendrick-Meekes, Monique J. B. M.;
Kluijtmans, Leo A. J.;
Morava, Éva;
Wevers, Ron A.

Publication type:

Article

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

Published in:

NMR in Biomedicine, 2006, v. 19, n. 2, p. 271, doi. 10.1002/nbm.1018

By:

Engelke, Udo F. H.;
Kremer, Berry;
Kluijtmans, Leo A. J.;
van der Graaf, Marinette;
Morava, Eva;
Loupatty, Ference J.;
Wanders, Ronald J. A.;
Moskau, Detlef;
Loss, Sandra;
van den Bergh, Erik;
Wevers, Ron A.

Publication type:

Article

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 56, doi. 10.3390/ijns9040056

By:

Veldman, Abigail;
Kiewiet, M. B. Gea;
Westra, Dineke;
Bosch, Annet M.;
Brands, Marion M. G.;
de Coo, René I. F. M.;
Derks, Terry G. J.;
Fuchs, Sabine A.;
van den Hout, Johanna. M. P.;
Huidekoper, Hidde H.;
Kluijtmans, Leo A. J.;
Koop, Klaas;
Lubout, Charlotte M. A.;
Mulder, Margaretha F.;
Panis, Bianca;
Rubio-Gozalbo, M. Estela;
de Sain-van der Velden, Monique G.;
Schaefers, Jaqueline;
Schreuder, Andrea B.;
Visser, Gepke

Publication type:

Article

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

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01909-5

By:

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

Publication type:

Article

Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1125, doi. 10.1038/sj.ejhg.5201677

By:

Lievers, Karin J. A.;
Kluijtmans, Leo A. J.;
Blom, Henk J.;
Wilson, Peter W.;
Selhub, Jacob;
Ordovas, Jose M.

Publication type:

Article

Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 942, doi. 10.1038/sj.ejhg.5201237

By:

Gellekink, Henkjan;
Heijer, Martin den;
Kluijtmans, Leo A J;
Blom, Henk J

Publication type:

Article

A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 583, doi. 10.1038/sj.ejhg.5200679

By:

Lievers, Karin J A;
Kluijtmans, Leo A J;
Heil, Sandra G;
Boers, Godfried H J;
Verhoef, Petra;
van Oppenraay-Emmerzaal, Dinny;
den Heijer, Martin;
Trijbels, Frans J M;
Blom, Henk J

Publication type:

Article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Published in:

Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325

By:

Wortmann, Saskia B;
Vaz, Frédéric M;
Gardeitchik, Thatjana;
Vissers, Lisenka E L M;
Renkema, G Herma;
Schuurs-Hoeijmakers, Janneke H M;
Kulik, Wim;
Lammens, Martin;
Christin, Christin;
Kluijtmans, Leo A J;
Rodenburg, Richard J;
Nijtmans, Leo G J;
Grünewald, Anne;
Klein, Christine;
Gerhold, Joachim M;
Kozicz, Tamas;
van Hasselt, Peter M;
Harakalova, Magdalena;
Kloosterman, Wigard;
Bari?, Ivo

Publication type:

Article

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Published in:

2021

By:

Engelke, Udo F. H.;
van Outersterp, Rianne E.;
Merx, Jona;
van Geenen, Fred A. M. G.;
van Rooij, Arno;
Berden, Giel;
Huigen, Marleen C. D. G.;
Kluijtmans, Leo A. J.;
Peters, Tessa M. A.;
Al-Shekaili, Hilal H.;
Leavitt, Blair R.;
de Vrieze, Erik;
Broekman, Sanne;
van Wijk, Erwin;
Tseng, Laura A.;
Kulkarni, Purva;
Rutjes, Floris P. J. T.;
Mecinović, Jasmin;
Struys, Eduard A.;
Jansen, Laura A.

Publication type:

journal article

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

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 1, p. 97, doi. 10.3390/metabo13010097

By:

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.

Publication type:

Article

Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 8, p. 679, doi. 10.3390/metabo12080679

By:

Bliziotis, Nikolaos G.;
Kluijtmans, Leo A. J.;
Tinnevelt, Gerjen H.;
Reel, Parminder;
Reel, Smarti;
Langton, Katharina;
Robledo, Mercedes;
Pamporaki, Christina;
Pecori, Alessio;
Van Kralingen, Josie;
Tetti, Martina;
Engelke, Udo F. H.;
Erlic, Zoran;
Engel, Jasper;
Deutschbein, Timo;
Nölting, Svenja;
Prejbisz, Aleksander;
Richter, Susan;
Adamski, Jerzy;
Januszewicz, Andrzej

Publication type:

Article

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

Published in:

Metabolites (2218-1989), 2021, v. 11, n. 9, p. 568, doi. 10.3390/metabo11090568

By:

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

Publication type:

Article

Genetics of hyperhomocysteinaemia in cardiovascular disease.

Published in:

Annals of Clinical Biochemistry, 2003, v. 40, n. 1, p. 46, doi. 10.1258/000456303321016169

By:

Lievers, Karin J. A.;
Kluijtmans, Leo A. J.;
Blom, Henk J.

Publication type:

Article

Correction to: A comparison of high‑throughput plasma NMR protocols for comparative untargeted metabolomics.

Published in:

2020

By:

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.

Publication type:

Correction Notice

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

Published in:

Metabolomics, 2020, v. 16, n. 5, p. 1, doi. 10.1007/s11306-020-01686-y

By:

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.

Publication type:

Article

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

Published in:

Endocrine (1355008X), 2022, v. 75, n. 1, p. 254, doi. 10.1007/s12020-021-02858-z

By:

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

Publication type:

Article

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 641, doi. 10.1007/s10545-017-0086-7

By:

Stelten, Bianca M. L.;
Bonnot, Olivier;
Huidekoper, Hidde H.;
van Spronsen, Francjan J.;
van Hasselt, Peter M.;
Kluijtmans, Leo A. J.;
Wevers, Ron A.;
Verrips, Aad

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 367, doi. 10.1007/s10545-018-0161-8

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6

By:

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.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 435, doi. 10.1007/s10545-018-0139-6

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 415, doi. 10.1007/s10545-017-0129-0

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

Publication type:

Article

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 407, doi. 10.1007/s10545-017-0109-4

By:

Václavík, Jan;
Coene, Karlien L. M.;
Vrobel, Ivo;
Najdekr, Lukáš;
Friedecký, David;
Karlíková, Radana;
Mádrová, Lucie;
Petsalo, Aleksanteri;
Engelke, Udo F. H.;
van Wegberg, Annemiek;
Kluijtmans, Leo A. J.;
Adam, Tomáš;
Wevers, Ron A.

Publication type:

Article

Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Published in:

Human Mutation, 2007, v. 28, n. 3, p. 255, doi. 10.1002/humu.20430

By:

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

Publication type:

Article

Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.

Published in:

Clinical Chemistry, 2022, v. 68, n. 5, p. 732, doi. 10.1093/clinchem/hvab276

By:

Tseng, Laura A.;
Engelke, Udo F. H.;
Huigen, Marleen C. D. G.;
Kluijtmans, Leo A. J.;
Haaxma, Charlotte A.;
Koolen, David A.;
Bok, Levinus A.;
Wright, Jason N.;
Gospe Jr., Sidney M.;
Janssen, Mirian C. H.;
van Karnebeek, Clara D. M.;
Coene, Karlien L. M.

Publication type:

Article

The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects.

Published in:

Human Genetics, 2004, v. 114, n. 2, p. 182, doi. 10.1007/s00439-003-1039-9

By:

Brown, Karen S.;
Kluijtmans, Leo A. J.;
Young, Ian S.;
McNulty, Helene;
Mitchell, Laura E.;
Yarnell, John W. G.;
Woodside, Jayne V.;
Boreham, Colin A.;
McMaster, Dorothy;
Murray, Liam;
Strain, J. J.;
Whitehead, Alexander S.

Publication type:

Article

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

Published in:

NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0132-5

By:

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

Publication type:

Article

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 862, doi. 10.1093/brain/awl389

By:

Rosalba Carrozzo;
Carlo Dionisi-Vici;
Ulrike Steuerwald;
Simona Lucioli;
Federica Deodato;
Sivia Di Giandomenico;
Enrico Bertini;
Barbara Franke;
Leo A. J. Kluijtmans;
Maria Chiara Meschini;
Cristiano Rizzo;
Fiorella Piemonte;
Richard Rodenburg;
René Santer;
Filippo M. Santorelli;
Arno van Rooij;
Diana Vermunt-de Koning;
Eva Morava;
Ron A. Wevers

Publication type:

Article

Sodium azide (NaN<sub>3</sub>) intoxication, "the man who lived": potential effective antidote and treatment strategy.

Published in:

Critical Care, 2025, v. 29, n. 1, p. 1, doi. 10.1186/s13054-025-05330-w

By:

Geerdink, Jasper X.;
van der Wal, Greetje;
de Jong, Lutea A. A.;
Olyslager, Erik J. H.;
van den Goorbergh, Thomas W.;
Kluijtmans, Leo A. J.;
Spronk, Peter E.

Publication type:

Article

The Moral Life of Professionals in Newborn Screening in the Netherlands: A Qualitative Study.

Published in:

Public Health Ethics, 2017, v. 10, n. 1, p. 19, doi. 10.1093/phe/phw011

By:

Oerlemans, Anke J. M.;
Kluijtmans, Leo A. J.;
van der Burg, Simone

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 12, doi. 10.1002/jmd2.12223

By:

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

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 70, doi. 10.1002/jmd2.12186

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.

Publication type:

Article

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.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 68, doi. 10.1002/jmd2.12124

By:

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.;
Spronsen, Francjan J.;
Visser, Gepke;
Vries, Maaike C.;
Williams, Monique;
Heijboer, Annemieke C.;
Kemper, Evelien A.;
Bosch, Annet M.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 79, doi. 10.1002/jmd2.12118

By:

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

Publication type:

Article