Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

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)

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

Author response for 'Localization of Active Endogenous and Exogenous GBA by Correlative Light‐Electron Microscopy in Human Fibroblasts'

Autor: Martijn J. C. van der Lienden, Herman S. Overkleeft, Abraham J. Koster, Sander I. van Kasteren, Eline van Meel, Johannes M. F. G. Aerts, Erik Bos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a4c50e686f0eeb1461f37beb60aabab9
https://doi.org/10.1111/tra.12641/v2/response1