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Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.
Published in:
Metabolites (2218-1989), 2024, v. 14, n. 9, p. 479, doi. 10.3390/metabo14090479
By:
- Weerd, Jorine C. van der;
- Wegberg, Annemiek M. J. van;
- Boer, Theo S.;
- Engelke, Udo F. H.;
- Coene, Karlien L. M.;
- Wevers, Ron A.;
- Bakker, Stephan J. L.;
- Blaauw, Pim de;
- Groen, Joost;
- Spronsen, Francjan J. van;
- Heiner-Fokkema, M. Rebecca
Publication type:
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
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
Towards the Disease Biomarker in an Individual Patient Using Statistical Health Monitoring.
Published in:
PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0092452
By:
- Engel, Jasper;
- Blanchet, Lionel;
- Engelke, Udo F. H.;
- Wevers, Ron A.;
- Buydens, Lutgarde M. C.
Publication type:
Article
Optimized Metabolomic Approach to Identify Uremic Solutes in Plasma of Stage 3–4 Chronic Kidney Disease Patients.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071199
By:
- Mutsaers, Henricus A. M.;
- Engelke, Udo F. H.;
- Wilmer, Martijn J. G.;
- Wetzels, Jack F. M.;
- Wevers, Ron A.;
- van den Heuvel, Lambertus P.;
- Hoenderop, Joost G.;
- Masereeuw, Rosalinde
Publication type:
Article
The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.
Published in:
PLoS Genetics, 2020, v. 16, n. 7, p. 1, doi. 10.1371/journal.pgen.1008884
By:
- Szeri, Flora;
- Lundkvist, Stefan;
- Donnelly, Sylvia;
- Engelke, Udo F. H.;
- Rhee, Kyu;
- Williams, Charlene J.;
- Sundberg, John P.;
- Wevers, Ron A.;
- Tomlinson, Ryan E.;
- Jansen, Robert S.;
- van de Wetering, Koen
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 spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
Published in:
NMR in Biomedicine, 2008, v. 21, n. 2, p. 138, doi. 10.1002/nbm.1170
By:
- Engelke, Udo F. H.;
- Sass, Jörn Oliver;
- Van Coster, Rudy N.;
- Gerlo, Erik;
- Olbrich, Heike;
- Krywawych, Stefan;
- Calvin, Jacqui;
- Hart, Claire;
- Omran, Heymut;
- 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
Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional 1H and two-dimensional 1H-13C NMR.
Published in:
NMR in Biomedicine, 2005, v. 18, n. 5, p. 331, doi. 10.1002/nbm.966
By:
- Engelke, Udo F. H.;
- Tangerman, Albert;
- Willemsen, Michèl A. A. P.;
- Moskau, Detlef;
- Loss, Sandra;
- Mudd, S. Harvey;
- Wevers, Ron A.
Publication type:
Article
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.
Published in:
NMR in Biomedicine, 2001, v. 14, n. 3, p. 167, doi. 10.1002/nbm.690
By:
- Moolenaar, Sytske H.;
- Knaap, Marjo S. van der;
- Engelke, Udo F. H.;
- Pouwels, Petra J. W.;
- Janssen-Zijlstra, Fokje S. M.;
- Verhoeven, Nanda M.;
- Jakobs, Cornelis;
- Wevers, Ron A.
Publication type:
Article
High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid.
Published in:
NMR in Biomedicine, 2000, v. 13, n. 5, p. 297, doi. 10.1002/1099-1492(200008)13:5<297::AID-NBM648>3.0.CO;2-I
By:
- Boss, Erik A.;
- Moolenaar, Sytske H.;
- Massuger, Leon F. A. G.;
- Boonstra, Henk;
- Engelke, Udo F. H.;
- de Jong, Jan G. N.;
- Wevers, Ron A.
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
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
Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.
Published in:
Annals of Clinical Biochemistry, 2003, v. 40, n. 1, p. 108, doi. 10.1258/000456303321016268
By:
- Morava, Eva;
- Kosztolányi, György;
- Engelke, Udo F. H.;
- Wevers, Ron A.
Publication type:
Article
A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls.
Published in:
2017
By:
- Malatji, Bontle G.;
- Meyer, Helgard;
- Mason, Shayne;
- Engelke, Udo F. H.;
- Wevers, Ron A.;
- van Reenen, Mari;
- Reinecke, Carolus J.
Publication type:
journal 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
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
Free sialic acid storage disease without sialuria.
Published in:
Annals of Neurology, 2009, v. 65, n. 6, p. 753, doi. 10.1002/ana.21624
By:
- Mochel, Fanny;
- Yang, Bingzhi;
- Barritault, Julie;
- Thompson, Jerry N.;
- Engelke, Udo F. H.;
- McNeill, Nathan H.;
- Benko, William S.;
- Kaneski, Christine R.;
- Adams, David R.;
- Tsokos, Maria;
- Abu-Asab, Mones;
- Huizing, Marjan;
- Seguin, Francois;
- Wevers, Ron A.;
- Ding, Jiahuan;
- Verheijen, Frans W.;
- Schiffmann, Raphael
Publication type:
Article
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 417, doi. 10.1002/jimd.12657
By:
- Peters, Tessa M. A.;
- Engelke, Udo F. H.;
- de Boer, Siebolt;
- Reintjes, Joris T. G.;
- Roullet, Jean‐Baptiste;
- Broekman, Sanne;
- de Vrieze, Erik;
- van Wijk, Erwin;
- Wamelink, Mirjam M. C.;
- Artuch, Rafael;
- Barić, Ivo;
- Merx, Jona;
- Boltje, Thomas J.;
- Martens, Jonathan;
- Willemsen, Michèl A. A. P.;
- Verbeek, Marcel M.;
- Wevers, Ron A.;
- Gibson, K. Michael;
- Coene, Karlien L. M.
Publication type:
Article
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 313, doi. 10.1002/jimd.12588
By:
- Post, Merel A.;
- de Wit, Isis;
- Zijlstra, Fokje S. M.;
- Engelke, Udo F. H.;
- van Rooij, Arno;
- Christodoulou, John;
- Tan, Tiong Yang;
- Le Fevre, Anna;
- Jin, Danqun;
- Yaplito‐Lee, Joy;
- Lee, Beom Hee;
- Low, Karen J.;
- Mallick, Andrew A.;
- Õunap, Katrin;
- Pitt, James;
- Reardon, William;
- Vals, Mari‐Anne;
- Wortmann, Saskia B.;
- Wessels, Hans J. C. T.;
- Bärenfänger, Melissa
Publication type:
Article
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 66, doi. 10.1002/jimd.12554
By:
- 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.
Publication type:
Article
Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1112, doi. 10.1002/jimd.12253
By:
- Peters, Tessa M. A.;
- Engelke, Udo F. H.;
- Boer, Siebolt;
- Heeft, Ed;
- Pritsch, Cynthia;
- Kulkarni, Purva;
- Wevers, Ron A.;
- Willemsen, Michèl A. A. P.;
- Verbeek, Marcel M.;
- Coene, Karlien L. M.
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
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
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
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03960-2
By:
- 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.
Publication type:
Article

Found: 30

Impact of Phenylketonuria on the Serum Metabolome and Plasma Lipidome: A Study in Early-Treated Patients.

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

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

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

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

Towards the Disease Biomarker in an Individual Patient Using Statistical Health Monitoring.

Optimized Metabolomic Approach to Identify Uremic Solutes in Plasma of Stage 3–4 Chronic Kidney Disease Patients.

The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.

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

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.

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

Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional <sup>1</sup>H and two-dimensional <sup>1</sup>H-<sup>13</sup>C NMR.

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.

High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid.

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

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

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

Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.

A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls.

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

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

Free sialic acid storage disease without sialuria.

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.

MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man tetrasaccharide and clinical spectrum of six new cases.

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

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

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

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

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

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