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Effectiveness of Pyridoxal-5′-Phosphate in PNPO Deficiency: A Systematic Review
Stolwijk, N. N., van Dussen, L., Reijnhout, N. D., Brands, M. M. M. G., Jaeger, B., Clayton, P. T., Hollak, C. E. M. & Bosch, A. M., 1 Sept 2025, In: Journal of inherited metabolic disease. 48, 5, e70074.Research output: Contribution to journal › Review article › Academic › peer-review
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Gait abnormalities in children with FOXP1 syndrome: A case series
Breij, L. M., Boeker, E. B., Jaeger, B. & Buizer, A. I., 1 May 2025, In: Journal of Pediatric Rehabilitation Medicine. 18, 2, p. 155-157 3 p.Research output: Contribution to journal › Article › Academic › peer-review
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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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