Specialization
Focus of research
Pediatric Metabolic Diseases
Lysosomal Storage disorders
Gyrate Atrophy of the Choroid and Retina
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Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach
Corazolla, E. M., Langeveld, M., Brands, M. M. M. G., Sjouke, B. & Hollak, C. E. M., 1 Mar 2025, In: JIMD reports. 66, 2, e70003.Research output: Contribution to journal › Article* › Academic › peer-review
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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
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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
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