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 University Rotterdam
Award Date: 13 Jul 2012
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Collaborations and top research areas from the last five years
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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
Open AccessFile259 Downloads (Pure) -
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate
Brands, M., de Puyraimond, C., Gospe, S. M., Schiff, M., Jaeger, B., Koot, B., Raphael, M., Lubout, C., Soto, B., Delanne, J., Imbard, A., Zempel, J., Kraal, K., Scheenstra, R. & Clayton, P., 22 Dec 2025, (E-pub ahead of print) In: Neuropediatrics.Research output: Contribution to journal › Article › Academic › peer-review
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Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs, M. J. N., Balfoort, B. M., Brands, M. M., ten Asbroek, A. L. M. A., Boon, C. J. F., Diederen, R. M. H., Timmer, C., Wagenmakers, M. A. E. M., Waterham, H. R., Wanders, R. J. A., Houtkooper, R. H., van Karnebeek, C. D. & Bergen, A. A., Nov 2025, In: Acta ophthalmologica. 103, 7, p. e436-e455Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile70 Downloads (Pure) -
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria
Eskes, E. C. B., van Dussen, L., Brands, M. M. M. G., Vaz, F. M., Aerts, J. M. F. G., van Kuilenburg, A. B. P., Sjouke, B. & Hollak, C. E. M., Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12789.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile29 Downloads (Pure) -
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
Open AccessFile29 Downloads (Pure)