Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

BACKGROUND: Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because of remarkably variable clinical presentations. The NPC Suspicion Index (NPC-SI)...

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Detalles Bibliográficos
Autores principales: Kawazoe, Tomoya, Yamamoto, Toshiyuki, Narita, Aya, Ohno, Kousaku, Adachi, Kaori, Nanba, Eiji, Noguchi, Atsuko, Takahashi, Tsutomu, Maekawa, Masamitsu, Eto, Yoshikatsu, Ogawa, Masafumi, Murata, Miho, Takahashi, Yuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098631/
https://www.ncbi.nlm.nih.gov/pubmed/30119649
http://dx.doi.org/10.1186/s12883-018-1124-2

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