Eline Eskes – Research output — Amsterdam UMC research portal

Research activity per year

3 Article

3 results

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2023

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

2 Citations (Scopus)
2022

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

Open Access
2021

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

Open Access