Specialization
Biochemistry
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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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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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Human inborn errors of long-chain fatty acid oxidation show impaired inflammatory responses to TLR4-ligand LPS
Mosegaard, S., Twayana, K. S., Denis, S. W., Kroon, J., Schomakers, B. V., van Weeghel, M., Houtkooper, R. H., Olsen, R. K. J. & Holm, C. K., 2024, (Accepted/In press) In: FASEB BioAdvances.Research output: Contribution to journal › Article › Academic › peer-review
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