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A rare case of Niemann–Pick disease type C without neurological involvement in a 66-year-old patient

The case of a 66 year-old female — the oldest known living patient with Niemann–Pick disease type C (NP-C) who remains free of any neurological or psychiatric manifestations 18 years after presentation — is presented. An incidental finding of massive splenomegaly was detected during a routine pelvic...

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Detalles Bibliográficos
Autores principales: Greenberg, C.R., Barnes, J.G., Kogan, S., Seargeant, L.E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750631/
https://www.ncbi.nlm.nih.gov/pubmed/26937389
http://dx.doi.org/10.1016/j.ymgmr.2015.02.004