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Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs
Müller, A. R., den Hollander, B., van Eeghen, A. M., van de Ven, P. M., Cornel, M., van Haelst, M., Sprengers, J. J., Bruining, H., Brands, M. M. & van Karnebeek, C. D., 1 Dec 2025, In: Genetics in Medicine. 27, 12, 101592.Research output: Contribution to journal › Article › Academic › peer-review
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Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials
den Hollander, B., Rothuizen-Lindenschot, M., Le, H. L., Ramautar, J. R., Müller, A. R., Geertjens, L., Vaz, F. M., van Eeghen, A. M., Cornel, M. C., Jacobs, B. A. W., Bruining, H., van de Ven, P. M., Brands, M. M. & van Karnebeek, C. D., Dec 2025, In: Molecular Genetics and Metabolism. 146, 4, p. 109268 109268.Research output: Contribution to journal › Article › Academic › peer-review
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The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
den Hollander, B., Hoytema van Konijnenburg, E. M. M., Hewitson, B., van der Meijden, J. C., Balfoort, B. M., Winter, B., Müller, A. R., Wasserman, W. W., Ferreira, C. R. & van Karnebeek, C. D., 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12835.Research output: Contribution to journal › Review article › Academic › peer-review
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