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  1. 2017

  2. Biochemical and cell biological aspects of X-linked adrenoleukodystrophy

    Schackmann, M. J. A., 2017, 127 p.

    Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

  3. 2016

  4. Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics

    Schackmann, M. J. A., Ofman, R., van Geel, B. M., Dijkstra, I. M. E., van Engelen, K., Wanders, R. J. A., Engelen, M. & Kemp, S., 2016, In: Molecular genetics and metabolism. 118, 2, p. 123-127

    Research output: Contribution to journal › Article › Academic › peer-review

  5. 2015

  6. Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis

    Schackmann, M. J. A., Ofman, R., Dijkstra, I. M. E., Wanders, R. J. A. & Kemp, S., 2015, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1851, 2, p. 231-237

    Research output: Contribution to journal › Article › Academic › peer-review

  7. 2012

  8. Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

    Engelen, M., Schackmann, M. J. A., Ofman, R., Sanders, R-J., Dijkstra, I. M. E., Houten, S. M., Fourcade, S., Pujol, A., Poll-The, B. T., Wanders, R. J. A. & Kemp, S., 2012, In: Journal of inherited metabolic disease. 35, 6, p. 1137-1145

    Research output: Contribution to journal › Article › Academic › peer-review

ID: 109551