Specialization
Focus of research
Pediatric Metabolic Diseases
Lysosomal Storage disorders
Gyrate Atrophy of the Choroid and Retina
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Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review
den Hollander, B., le, H. L., Swart, E. L., Bikker, H., Hollak, C. E. M. & Brands, M. M., 1 Sept 2024, In: Molecular Genetics and Metabolism. 143, 1-2, 108556.Research output: Contribution to journal › Article › Academic › peer-review
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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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Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen
den Hollander, B., Brands, M. M., Nijhuis, I. J. M., Doude van Troostwijk, L. J. A. E., van Essen, P., Hofsteenge, A. H., Koot, B. G., Müller, A. R., Tseng, L. A., Stroes, E. S. G., van de Ven, P. M., Wiegman, A. & van Karnebeek, C. D. M., May 2024, In: Molecular Genetics and Metabolism. 142, 1, p. 108347 108347.Research output: Contribution to journal › Article › Academic › peer-review
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