Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Eline C. B. Eskes"'
Autor:
Eleonore M. Corazolla, Eline C. B. Eskes, Jorien Veldwijk, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background Gene therapy is currently in development for several monogenetic diseases including lysosomal storage disorders. Limited evidence is available on patient preferences for gene therapy in this population. In this study, we compare g
Externí odkaz:
https://doaj.org/article/6aa6f1ea34a14fd6949ec163980388bd
Autor:
Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Introduction Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within t
Externí odkaz:
https://doaj.org/article/9d1b47e77b6549928fc8f4ca8c8e1114
Autor:
Eline C. B. Eskes, Martijn J. C. van derLienden, Joris J. T. H. Roelofs, Liffert Vogt, Johannes M. F. G. Aerts, Jan Aten, Carla E. M. Hollak
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 15-21 (2021)
Abstract Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen
Externí odkaz:
https://doaj.org/article/0d8fd9418c5847569222bd253ca6e84e
Autor:
Johannes M. F. G. Aerts, Liffert Vogt, Martijn J. C. van der Lienden, Carla E. M. Hollak, Eline C. B. Eskes, Jan Aten, Joris J. T. H. Roelofs
Publikováno v:
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, ' Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease ', JIMD Reports, vol. 62, no. 1, pp. 15-21 . https://doi.org/10.1002/jmd2.12242
JIMD Reports, 62(1), 15-21
JIMD reports, 62(1), 15-21. Springer Berlin
JIMD Reports, 62(1), 15-21. Springer Berlin
JIMD Reports
JIMD Reports, Vol 62, Iss 1, Pp 15-21 (2021)
JIMD Reports, 62(1), 15-21
JIMD reports, 62(1), 15-21. Springer Berlin
JIMD Reports, 62(1), 15-21. Springer Berlin
JIMD Reports
JIMD Reports, Vol 62, Iss 1, Pp 15-21 (2021)
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b059134105cea6f3fffd71e839d7df
https://hdl.handle.net/1887/3256790
https://hdl.handle.net/1887/3256790
Autor:
Johannes M. F. G. Aerts, Carla E. M. Hollak, Frédéric M. Vaz, Barbara Sjouke, Susan M. I. Goorden, Eline C. B. Eskes, André B.P. van Kuilenburg
Publikováno v:
Molecular Genetics and Metabolism, 130(1), 16-26. ACADEMIC PRESS INC ELSEVIER SCIENCE
Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a rare lipid storage disorder leading to accumulation of sphingomyelin and its precursors primarily in macrophages. The disease has a broad phenotypic spectrum ranging from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae3f186a422c1da1c36a483e434f6f2
https://doi.org/10.1016/j.ymgme.2020.02.002
https://doi.org/10.1016/j.ymgme.2020.02.002