Search Results - Dirk J. Lefeber

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  1. 1

    Biological and Technical Challenges in Unraveling the Role of N-Glycans in Immune Receptor Regulation by Paola de Haas, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi

    Published in Frontiers in Chemistry (2020-02-01)
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  2. 2

    Development of tools to facilitate the diagnosis of hereditary fructose intolerance by Bianca Panis, Lise E. F. Janssen, Dirk J. Lefeber, Nynke Simons, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers

    Published in JIMD Reports (2023-09-01)
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  3. 3

    CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model by Hideki Tokuoka, Rieko Imae, Hitomi Nakashima, Hiroshi Manya, Chiaki Masuda, Shunsuke Hoshino, Kazuhiro Kobayashi, Dirk J. Lefeber, Riki Matsumoto, Takashi Okada, Tamao Endo, Motoi Kanagawa, Tatsushi Toda

    Published in Nature Communications (2022-04-01)
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  4. 4

    Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells by Federica Conte, Marek J. Noga, Monique van Scherpenzeel, Raisa Veizaj, Rik Scharn, Juda-El Sam, Chiara Palumbo, Frans C. A. van den Brandt, Christian Freund, Eduardo Soares, Huiqing Zhou, Dirk J. Lefeber

    Published in Cells (2023-07-01)
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  5. 5

    Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities by Hans J.C.T. Wessels, Purva Kulkarni, Maurice van Dael, Anouk Suppers, Esther Willems, Fokje Zijlstra, Else Kragt, Jolein Gloerich, Pierre-Olivier Schmit, Stuart Pengelley, Kristina Marx, Alain J. van Gool, Dirk J. Lefeber

    Published in Journal of Advanced Research (2024-07-01)
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  6. 6

    Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency by Marcus Keatinge, Matthew E. Gegg, Lisa Watson, Heather Mortiboys, Nan Li, Mark Dunning, Deepak Ailani, Hai Bui, Astrid van Rens, Dirk J. Lefeber, Anthony H. V. Schapira, Ryan B. MacDonald, Oliver Bandmann

    Published in Disease Models & Mechanisms (2023-06-01)
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  7. 7

    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum by Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek

    Published in Frontiers in Neurology (2021-06-01)
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  8. 8

    Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance by Irena Josephina Johanna Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L. I. Gassen, Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke Wijk, Peter van Hasselt

    Published in Genome Medicine (2025-02-01)
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  9. 9

    Defective Lipid Droplet–Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115Summary by Lars E. Larsen, Marjolein A.W. van den Boogert, Wilson A. Rios-Ocampo, Jos C. Jansen, Donna Conlon, Patrick L.E. Chong, J. Han M. Levels, Roos E. Eilers, Vinay V. Sachdev, Noam Zelcer, Tobias Raabe, Miao He, Nicholas J. Hand, Joost P.H. Drenth, David J. Rader, Eric S.G. Stroes, Dirk J. Lefeber, Johan W. Jonker, Adriaan G. Holleboom

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