Research output per year
Research output per year
Personal profile
Research interests
Pediatric Metabolic Diseases
Lysosomal Storage disorders
Gyrate Atrophy of the Choroid and Retina
Education/Academic qualification
PhD, Enzyme-replacement therapy in mucopolysacchidoses: with a specific focus on MPS VI, Erasmus MC University Medical Center
2009 → 15 Oct 2013
Award Date: 15 Oct 2013
Master, Clinical Epidemiology, Erasmus Universiteit Rotterdam
Award Date: 13 Jul 2012
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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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Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C
Brands, M. M. M. G., 1 Feb 2024, In: New England journal of medicine. 390, 5, p. 421 431 p., 5.Research output: Contribution to journal › Article › Academic › peer-review
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Trial of N -Acetyl- l -Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl, T., Ramaswami, U., Brands, M., Foltan, T., Gautschi, M., Gissen, P., Gowing, F., Hahn, A., Jones, S., Kay, R., Kolnikova, M., Arash-Kaps, L., Marquardt, T., Mengel, E., Park, J. H., Reichmannová, S., Schneider, S. A., Sivananthan, S., Walterfang, M., Wibawa, P., & 2 others, 1 Feb 2024, In: New England journal of medicine. 390, 5, p. 421-431 11 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
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, 16 Jan 2024, In: EMBO molecular medicine. 16, 1, p. 4-7 4 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access -
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
Open Access1 Citation (Scopus)