Works by Bierau, Jörgen


Results: 44
    1

    Recessive ITPA mutations cause an early infantile encephalopathy.

    Published in:
    2015
    By:
    • Kevelam, Sietske H.;
    • Bierau, Jörgen;
    • Salvarinova, Ramona;
    • Agrawal, Shakti;
    • Honzik, Tomas;
    • Visser, Dennis;
    • Weiss, Marjan M.;
    • Salomons, Gajja S.;
    • Abbink, Truus E. M.;
    • Waisfisz, Quinten;
    • van der Knaap, Marjo S.;
    • Bierau, Jörgen
    Publication type:
    journal article
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    Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

    Published in:
    2019
    By:
    • van Vliet, Kimber;
    • van Ginkel, Willem G.;
    • Jahja, Rianne;
    • Daly, Anne;
    • MacDonald, Anita;
    • De Laet, Corinne;
    • Vara, Roshni;
    • Rahman, Yusof;
    • Cassiman, David;
    • Eyskens, Francois;
    • Timmer, Corrie;
    • Mumford, Nicky;
    • Bierau, Jörgen;
    • van Hasselt, Peter M.;
    • Gissen, Paul;
    • Goyens, Philippe J.;
    • McKiernan, Patrick J.;
    • Wilcox, Gisela;
    • Morris, Andrew A. M.;
    • Jameson, Elisabeth A.
    Publication type:
    journal article
    4

    Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 10, p. 1991, doi. 10.1515/cclm-2023-1291
    By:
    • Oliva, Clara;
    • Arias, Angela;
    • Ruiz-Sala, Pedro;
    • Garcia-Villoria, Judit;
    • Carling, Rachel;
    • Bierau, Jörgen;
    • Ruijter, George J. G.;
    • Casado, Mercedes;
    • Ormazabal, Aida;
    • Artuch, Rafael
    Publication type:
    Article
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    Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 952, doi. 10.1002/jimd.12528
    By:
    • van Vliet, Kimber;
    • van Ginkel, Willem G.;
    • Jahja, Rianne;
    • Daly, Anne;
    • MacDonald, Anita;
    • Santra, Saikat;
    • De Laet, Corinne;
    • Goyens, Philippe J.;
    • Vara, Roshni;
    • Rahman, Yusof;
    • Cassiman, David;
    • Eyskens, Francois;
    • Timmer, Corrie;
    • Mumford, Nicky;
    • Gissen, Paul;
    • Bierau, Jörgen;
    • van Hasselt, Peter M.;
    • Wilcox, Gisela;
    • Morris, Andrew A. M.;
    • Jameson, Elisabeth A.
    Publication type:
    Article
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    DTYMK is essential for genome integrity and neuronal survival.

    Published in:
    Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
    By:
    • Vanoevelen, Jo M.;
    • Bierau, Jörgen;
    • Grashorn, Janine C.;
    • Lambrichs, Ellen;
    • Kamsteeg, Erik-Jan;
    • Bok, Levinus A.;
    • Wevers, Ron A.;
    • van der Knaap, Marjo S.;
    • Bugiani, Marianna;
    • Frisk, Junmei Hu;
    • Colnaghi, Rita;
    • O'Driscoll, Mark;
    • Hellebrekers, Debby M. E. I.;
    • Rodenburg, Richard;
    • Ferreira, Carlos R.;
    • Brunner, Han G.;
    • van den Wijngaard, Arthur;
    • Abdel-Salam, Ghada M. H.;
    • Wang, Liya;
    • Stumpel, Constance T. R. M.
    Publication type:
    Article
    31

    Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

    Published in:
    Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
    By:
    • van Kuilenburg, André B. P.;
    • Meijer, Judith;
    • Mul, Adri N. P. M.;
    • Hennekam, Raoul C. M.;
    • Hoovers, Jan M. N.;
    • de Die-Smulders, Christine E. M.;
    • Weber, Peter;
    • Mori, Andrea Capone;
    • Bierau, Jörgen;
    • Fowler, Brian;
    • Macke, Klaus;
    • Sass, Jörn Oliver;
    • Meinsma, Rutger;
    • Hennermann, Julia B.;
    • Miny, Peter;
    • Zoetekouw, Lida;
    • Vijzelaar, Raymon;
    • Nicolai, Joost;
    • Ylstra, Bauke;
    • Rubio-Gozalbo, M. Estela
    Publication type:
    Article
    32

    CAD mutations and uridine-responsive epileptic encephalopathy.

    Published in:
    2017
    By:
    • Koch, Johannes;
    • Mayr, Johannes A.;
    • Alhaddad, Bader;
    • Rauscher, Christian;
    • Bierau, Jörgen;
    • Kovacs-Nagy, Reka;
    • Coene, Karlien L. M.;
    • Bader, Ingrid;
    • Holzhacker, Monika;
    • Prokisch, Holger;
    • Venselaar, Hanka;
    • Wevers, Ron A.;
    • Distelmaier, Felix;
    • Polster, Tilman;
    • Leiz, Steffen;
    • Betzler, Cornelia;
    • Strom, Tim M.;
    • Sperl, Wolfgang;
    • Meitinger, Thomas;
    • Wortmann, Saskia B.
    Publication type:
    journal article
    33

    Post-Prandial Protein Handling: You Are What You Just Ate.

    Published in:
    PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141582
    By:
    • Groen, Bart B. L.;
    • Horstman, Astrid M.;
    • Hamer, Henrike M.;
    • de Haan, Michiel;
    • van Kranenburg, Janneau;
    • Bierau, Jörgen;
    • Poeze, Martijn;
    • Wodzig, Will K. W. H.;
    • Rasmussen, Blake B.;
    • van Loon, Luc J. C.
    Publication type:
    Article
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    Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

    Published in:
    2018
    By:
    • Haskovic, Minela;
    • Derks, Britt;
    • van der Ploeg, Liesbeth;
    • Trommelen, Jorn;
    • Nyakayiru, Jean;
    • van Loon, Luc J. C.;
    • Mackinnon, Sabrina;
    • Yue, Wyatt W.;
    • Peake, Roy W. A.;
    • Zha, Li;
    • Demirbas, Didem;
    • Qi, Wanshu;
    • Huang, Xiaoping;
    • Berry, Gerard T.;
    • Achten, Jelle;
    • Bierau, Jörgen;
    • Rubio-Gozalbo, M. Estela;
    • Coelho, Ana I.
    Publication type:
    journal article
    41

    LDL cholesterol and uridine levels in blood are potential nutritional biomarkers of AD progression: The NUDAD project: Biomarkers (non‐neuroimaging) / Novel biomarkers.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.043108
    By:
    • de Leeuw, Francisca A.;
    • Tijms, Betty M.;
    • Doorduijn, Astrid S;
    • Hendriksen, Heleen M.A.;
    • van de Rest, Ondine;
    • de van der Schueren, Marian;
    • Visser, Marjolein;
    • van den Heuvel, Ellen G.H.M.;
    • van Wijk, Nick;
    • Bierau, Jörgen;
    • Scheltens, Philip;
    • Kester, Maartje I.;
    • van Der Flier, Wiesje;
    • Teunissen, Charlotte E.
    Publication type:
    Article
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    Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-13168-4
    By:
    • Zurlo, Giada;
    • Liu, Xijuan;
    • Takada, Mamoru;
    • Fan, Cheng;
    • Simon, Jeremy M.;
    • Ptacek, Travis S.;
    • Rodriguez, Javier;
    • von Kriegsheim, Alex;
    • Liu, Juan;
    • Locasale, Jason W.;
    • Robinson, Adam;
    • Zhang, Jing;
    • Holler, Jessica M.;
    • Kim, Baek;
    • Zikánová, Marie;
    • Bierau, Jörgen;
    • Xie, Ling;
    • Chen, Xian;
    • Li, Mingjie;
    • Perou, Charles M.
    Publication type:
    Article