Specialization
Inborn Errors of Metabolism- Niemann-Pick disease
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Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency
Eskes, E. C. B., van der Lienden, M. J. C., Sjouke, B., van Vliet, L., Brands, M. M. M. G., Hollak, C. E. M. & Aerts, J. M. F. G., 1 Aug 2023, In: Molecular Genetics and Metabolism. 139, 4, 107631.Research output: Contribution to journal › Article › Academic › peer-review
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Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study
Eskes, E. C. B., Beishuizen, C. R. L., Corazolla, E. M., van Middelaar, T., Brands, M. M. M. G., Dekker, H., van de Mheen, E., Langeveld, M., Hollak, C. E. M. & Sjouke, B., 1 Dec 2022, In: Orphanet Journal of Rare Diseases. 17, 1, 383.Research output: Contribution to journal › Article › Academic › peer-review
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Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
Eskes, E. C. B., van der Lienden, M. J. C., Roelofs, J. J. T. H., Vogt, L., Aerts, J. M. F. G., Aten, J. & Hollak, C. E. M., 2021, In: JIMD reports. 62, 1, p. 15-21 7 p.Research output: Contribution to journal › Article › Academic › peer-review
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