PI
Specialization
Inherited Metabolic Diseases
Focus of research
Natural history, pathophysiology and treatment of lysosomal storage disorders
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Editorial Comment to Regulatory News
Hollak, C. E. M. & Bouwhuis, N., 1 Jul 2025, In: Journal of inherited metabolic disease. 48, 4, e70071.Research output: Contribution to journal › Editorial* › Academic › peer-review
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Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects
Polak, Y., Kemper, E. M., Engelen, M., Klouwer, F. C. C., Berendse, K., Vaz, F. M., Koot, B. G. P., Swart, E. L. & Hollak, C. E. M., 1 Jul 2025, In: Journal of inherited metabolic disease. 48, 4, e70062.Research output: Contribution to journal › Article* › Academic › peer-review
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Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary Involvement
Eskes, E. C. B., Schomakers, B. V., van Weeghel, M., Terheggen-Lagro, S. W. J., Meijboom, L. J., Hollak, C. E. M., Brinkman, P. & Sjouke, B., 1 Jul 2025, In: Journal of inherited metabolic disease. 48, 4, e70039.Research output: Contribution to journal › Article* › Academic › peer-review
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