Specialization
Focus of research
Pediatric Metabolic Diseases
Lysosomal Storage disorders
Gyrate Atrophy of the Choroid and Retina
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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, 1 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 Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B., Visser, G., & 4 others, 1 Dec 2023, In: International Journal of Neonatal Screening. 9, 4, 56.Research output: Contribution to journal › Article › Academic › peer-review
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Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.
den Hollander, B., Rothuizen-Lindenschot, M., Geertjens, L., Vaz, F. M., Brands, M. M., le, H. L., van Eeghen, A. M., van de Ven, P. M., Cornel, M. C., Jacobs, B. A. W., Bruining, H. & van Karnebeek, C. D., 1 Dec 2023, In: Contemporary Clinical Trials Communications. 36, p. 101233 101233.Research output: Contribution to journal › Article › Academic › peer-review
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