Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 3


Results: 26
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    Think big — think omics.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 281, doi. 10.1007/s10545-018-0165-4
    By:
    • Wevers, Ron A.;
    • Blau, Nenad
    Publication type:
    Article
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    Recognizable phenotypes in CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 541, doi. 10.1007/s10545-018-0156-5
    By:
    • Ferreira, Carlos R.;
    • Altassan, Ruqaia;
    • Marques-Da-Silva, Dorinda;
    • Francisco, Rita;
    • Jaeken, Jaak;
    • Morava, Eva
    Publication type:
    Article
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    The role of the clinician in the multi-omics era: are you ready?

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
    By:
    • van Karnebeek, Clara D. M.;
    • Wortmann, Saskia B.;
    • Tarailo-Graovac, Maja;
    • Langeveld, Mirjam;
    • Ferreira, Carlos R.;
    • van de Kamp, Jiddeke M.;
    • Hollak, Carla E.;
    • Wasserman, Wyeth W.;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • Haack, Tobias B.;
    • Wanders, Ronald J.A.;
    • Boycott, Kym M.
    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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    Targeted versus untargeted omics — the CAFSA story.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 447, doi. 10.1007/s10545-017-0134-3
    By:
    • del Mar Amador, Maria;
    • Colsch, Benoit;
    • Lamari, Foudil;
    • Jardel, Claude;
    • Ichou, Farid;
    • Rastetter, Agnès;
    • Sedel, Frédéric;
    • Jourdan, Fabien;
    • Frainay, Clément;
    • Wevers, Ronald A.;
    • Roze, Emmanuel;
    • Depienne, Christel;
    • Junot, Christophe;
    • Mochel, Fanny
    Publication type:
    Article
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    Plasma lipidomics as a diagnostic tool for peroxisomal disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 489, doi. 10.1007/s10545-017-0114-7
    By:
    • Herzog, Katharina;
    • Pras-Raves, Mia L.;
    • Ferdinandusse, Sacha;
    • Vervaart, Martin A. T.;
    • Luyf, Angela C. M.;
    • van Kampen, Antoine H. C.;
    • Wanders, Ronald J. A.;
    • Waterham, Hans R.;
    • Vaz, Frédéric M.
    Publication type:
    Article
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