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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