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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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Vision on gyrate atrophy: why treat the eye?
Bergen, A. A., Buijs, M. J., ten Asbroek, A. L., Balfoort, B. M., Boon, C. J. & Dutch GACR “Bird’s Eye View” Consortium, 16 Jan 2024, In: EMBO molecular medicine. 16, 1, p. 4-7 4 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)
Balfoort, B. M., Buijs, M. J. N., ten Asbroek, A. L. M. A., Bergen, A. A. B., Boon, C. J. F., Ferreira, E. A., Houtkooper, R. H., Wagenmakers, M. A. E. M., Wanders, R. J. A., Waterham, H. R., Timmer, C., van Karnebeek, C. D. & Brands, M. M., 1 Sept 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 96-116 21 p.Research output: Contribution to journal › Review article › Academic › peer-review
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