Works matching AU Lenthe, Henk van


Results: 12
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    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

    Published in:
    2019
    By:
    • Vaz, Frédéric M;
    • McDermott, John H;
    • Alders, Mariëlle;
    • Wortmann, Saskia B;
    • Kölker, Stefan;
    • Pras-Raves, Mia L;
    • Vervaart, Martin A T;
    • Lenthe, Henk van;
    • Luyf, Angela C M;
    • Elfrink, Hyung L;
    • Metcalfe, Kay;
    • Cuvertino, Sara;
    • Clayton, Peter E;
    • Yarwood, Rebecca;
    • Lowe, Martin P;
    • Lovell, Simon;
    • Rogers, Richard C;
    • Study, Deciphering Developmental Disorders;
    • Kampen, Antoine H C van;
    • Ruiter, Jos P N
    Publication type:
    journal article
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    β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

    Published in:
    Human Molecular Genetics, 2004, v. 13, n. 22, p. 2793, doi. 10.1093/hmg/ddh303
    By:
    • van Kuilenburg, André B.P.;
    • Meinsma, Rutger;
    • Beke, Eva;
    • Assmann, Birgit;
    • Ribes, Antonia;
    • Lorente, Isabel;
    • Busch, Rebekka;
    • Mayatepek, Ertan;
    • Abeling, Nico G.G.M.;
    • van Cruchten, Arno;
    • Stroomer, Alida E.M.;
    • van Lenthe, Henk;
    • Zoetekouw, Lida;
    • Kulik, Willem;
    • Hoffmann, Georg F.;
    • Voit, Thomas;
    • Wevers, Ron A.;
    • Rutsch, Frank;
    • van Gennip, Albert H.
    Publication type:
    Article
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    C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.

    Published in:
    PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154597
    By:
    • van de Beek, Malu-Clair;
    • Dijkstra, Inge M. E.;
    • van Lenthe, Henk;
    • Ofman, Rob;
    • Goldhaber-Pasillas, Dalia;
    • Schauer, Nicolas;
    • Schackmann, Martin;
    • Engelen-Lee, Joo-Yeon;
    • Vaz, Frédéric M.;
    • Kulik, Wim;
    • Wanders, Ronald J. A.;
    • Engelen, Marc;
    • Kemp, Stephan
    Publication type:
    Article
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    Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders.

    Published in:
    FASEB Journal, 2024, v. 38, n. 4, p. 1, doi. 10.1096/fj.202302163R
    By:
    • Schwantje, Marit;
    • Mosegaard, Signe;
    • Knottnerus, Suzan J. G.;
    • van Klinken, Jan Bert;
    • Wanders, Ronald J.;
    • van Lenthe, Henk;
    • Hermans, Jill;
    • IJlst, Lodewijk;
    • Denis, Simone W.;
    • Jaspers, Yorrick R. J.;
    • Fuchs, Sabine A.;
    • Houtkooper, Riekelt H.;
    • Ferdinandusse, Sacha;
    • Vaz, Frédéric M.
    Publication type:
    Article
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