Found: 6

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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

  • A Sensitive Assay for Virus Discovery in Respiratory Clinical Samples.

    Published in:
    PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016118
    By:
    • Vries, Michel de;
    • Deijs, Martin;
    • Canuti, Marta;
    • van Schaik, Barbera D. C.;
    • Faria, Nuno R.;
    • van de Garde, Martijn D. B.;
    • Jachimowski, Loes C. M.;
    • Jebbink, Maarten F.;
    • Jakobs, Marja;
    • Luyf, Angela C. M.;
    • Coenjaerts, Frank E. J.;
    • Claas, Eric C. J.;
    • Molenkamp, Richard;
    • Koekkoek, Sylvie M.;
    • Lammens, Christine;
    • Leus, Frank;
    • Goossens, Herman;
    • Ieven, Margareta;
    • Baas, Frank;
    • van der Hoek, Lia
    Publication type:
    Article

  • Initial steps towards a production platform for DNA sequence analysis on the grid.

    Published in:
    BMC Bioinformatics, 2010, v. 11, p. 598, doi. 10.1186/1471-2105-11-598
    By:
    • Luyf, Angela C. M.;
    • van Schaik, Barbera D. C.;
    • de Vries, Michel;
    • Baas, Frank;
    • van Kampen, Antoine H. C.;
    • Olabarriaga, Silvia D.
    Publication type:
    Article

  • 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

  • Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 479, doi. 10.1007/s10545-017-0076-9
    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

  • Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85455-4
    By:
    • Held, Ntsiki M.;
    • Buijink, M. Renate;
    • Elfrink, Hyung L.;
    • Kooijman, Sander;
    • Janssens, Georges E.;
    • Luyf, Angela C. M.;
    • Pras-Raves, Mia L.;
    • Vaz, Frédéric M.;
    • Michel, Stephan;
    • Houtkooper, Riekelt H.;
    • van Weeghel, Michel
    Publication type:
    Article