Specialization
Inborn Errors of Metabolism- Niemann-Pick disease
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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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The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adults
Eskes, E. C. B., van den Berg-Faaij, S. A. M., Wassenaar, N. P. M., Hollak, C. E. M., Nederveen, A. J. & Sjouke, B., 1 Jun 2025, In: Molecular Genetics and Metabolism. 145, 2, 109107.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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