Works by Engelke, Udo F. H.


Results: 30
    1

    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
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    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
    9

    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
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    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
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    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
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    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
    18

    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
    19

    MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man 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
    20

    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
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    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
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    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
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