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Medicine Development and Access for Rare Diseases: Can We Do Better?
Hollak, C. E. M., Rosenberg, N., Post, C., Stolwijk, N., Manders, E., Schoenmakers, D., Penninx, B., Reijnhout, N., Verdeyen, K., Jonker, R., Bosch, A. M., Langeveld, M., van der Wel, V., de Visser, S. & van den Berg, S., Mar 2026, In: Journal of inherited metabolic disease. 49, 2, p. e70146 e70146.Research output: Contribution to journal › Review article › Academic › peer-review
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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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Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Stolwijk, N. N., Häberle, J., Huidekoper, H. H., Wagenmakers, M. A. E. M., Hollak, C. E. M., Bosch, A. M. & the E-IMD and MetabERN Working Group on the Real-World Use of products for UCD Management, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12815.Research output: Contribution to journal › Article › Academic › peer-review
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