Specialization
Clinical Biochemical Geneticist
Focus of research
Inherited metabolic disorders with the emphasis on peroxisomal and mitochondrial fatty acid oxidation disorders.
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Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay
Balfoort, B. M., Pampalone, G., Ruiter, J. P. N., Denis, S. W., Brands, M. M., Timmer, C. & GACR Bird's Eye View Consortium, 1 Sept 2024, In: Molecular Genetics and Metabolism. 143, 1-2, 108542.Research output: Contribution to journal › Article › Academic › peer-review
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Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics
Vaz, F. M., Staps, P., van Klinken, J. B., van Lenthe, H., Vervaart, M., Wanders, R. J. A., Pras-Raves, M. L., van Weeghel, M., Salomons, G. S., Ferdinandusse, S., Wevers, R. A. & Willemsen, M. A. A. P., 1 Mar 2024, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1869, 2, p. 159447 159447.Research output: Contribution to journal › Article › Academic › peer-review
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Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
Schwantje, M., Mosegaard, S., Knottnerus, S. J. G., van Klinken, J. B., Wanders, R. J., van Lenthe, H., Hermans, J., IJlst, L., Denis, S. W., Jaspers, Y. R. J., Fuchs, S. A., Houtkooper, R. H., Ferdinandusse, S. & Vaz, F. M., 29 Feb 2024, In: FASEB Journal. 38, 4, e23478.Research output: Contribution to journal › Article › Academic › peer-review
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