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

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

Abstract 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 (...

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Bibliographic Details
Main Authors: Tomoya Kawazoe, Toshiyuki Yamamoto, Aya Narita, Kousaku Ohno, Kaori Adachi, Eiji Nanba, Atsuko Noguchi, Tsutomu Takahashi, Masamitsu Maekawa, Yoshikatsu Eto, Masafumi Ogawa, Miho Murata, Yuji Takahashi
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Neurology
Subjects:
Niemann-Pick disease type C
Schizophrenia
Dystonia
Miglustat
NPC1 mutation
Online Access:http://link.springer.com/article/10.1186/s12883-018-1124-2

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http://link.springer.com/article/10.1186/s12883-018-1124-2

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