Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

Niemann–Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Piroth, Tobias, Boelmans, Kai, Amtage, Florian, Rijntjes, Michel, Wierciochin, Anna, Musacchio, Thomas, Weiller, Cornelius, Volkmann, Jens, Klebe, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5378773/
https://ncbi.nlm.nih.gov/pubmed/28421028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2017.00108
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