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

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

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scientific article published on 17 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Phenotypic variability of Niem ...... e schizophrenia: a case report

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Phenotypic variability of Niem ...... e schizophrenia: a case report

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Phenotypic variability of Niem ...... e schizophrenia: a case report

@en

Phenotypic variability of Niem ...... e schizophrenia: a case report

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Phenotypic variability of Niem ...... e schizophrenia: a case report

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Phenotypic variability of Niem ...... e schizophrenia: a case report

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P1476

Phenotypic variability of Niem ...... e schizophrenia: a case report

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P2093

Atsuko Noguchi

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Aya Narita

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Eiji Nanba

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Kaori Adachi

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Kousaku Ohno

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Masafumi Ogawa

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Masamitsu Maekawa

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Miho Murata

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Toshiyuki Yamamoto

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Tsutomu Takahashi

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P2860

Niemann-Pick disease type C

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

The adult form of Niemann-Pick disease type C.

Psychiatric signs and symptoms in treatable inborn errors of metabolism.

LOVD v.2.0: the next generation in gene variant databases.

Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

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s12883-018-1124-2

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117

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scholarly article

case report

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10.1186/S12883-018-1124-2

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English

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Tomoya Kawazoe

Yuji Takahashi

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2018-08-17T00:00:00Z

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P6179

1106156018

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P698

30119649

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P921

schizophrenia

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6098631

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