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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Main Authors: C.R. Greenberg, J.G. Barnes, S. Kogan, L.E. Seargeant
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015-06-01
Colecção:Molecular Genetics and Metabolism Reports
Assuntos:
Niemann–Pick disease type C (NP-C)
Splenomegaly
Organomegaly
Asymptomatic
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2214426915000117
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