Works matching AU Vervaart, Martin A T

Results: 4
    1

    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
    2
    3

    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
    4