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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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
Balfoort, B. M., van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P. & GACR “Bird's Eye View” Consortium, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12842.Research output: Contribution to journal › Article* › Academic › peer-review
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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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