Personal profile
Specialisation
Inborn Errors of Metabolism- Niemann-Pick disease
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Dive into the research topics where Eline Eskes is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Chronic visceral acid sphingomyelinase deficiency: Pavin the way to biomarker development
Eskes, E. C. B., 2025, 252 p.Research output: PhD Thesis › Phd-Thesis - Research and graduation internal
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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
Open AccessFile34 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) -
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
Open AccessFile32 Downloads (Pure) -
Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders
Eskes, E. C. B., van Dussen, L., Aerts, J. M. F. G., van der Lienden, M. J. C., Maas, M., Akkerman, E. M., van Kuilenburg, A. B. P., Sjouke, B. & Hollak, C. E. M., 1 Sept 2024, In: JIMD reports. 65, 5, p. 330-340 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile28 Downloads (Pure)