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Anne-Katrin Giese et al.
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Secondary psychosis induced by metabolic disorders
Olivier Bonnot et al.
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Psychiatric signs and symptoms in treatable inborn errors of metabolism
S. Nia
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M. Strupp et al.
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Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
Helena Jahnova et al.
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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
Lucia Abela et al.
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Caroline Demily et al.
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M. Walterfang et al.
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A. Maubert et al.
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Mark Walterfang et al.
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Jeffrey L. Waugh et al.
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Disease and patient characteristics in NP-C patients: findings from an international disease registry
Marc C. Patterson et al.
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Young-Onset Dementia
Dulanji K. Kuruppu et al.
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Brian S. Rogers et al.
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M. Walterfang et al.
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F. A. Wijburg et al.
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Mark Walterfang et al.
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A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma
Xuntian Jiang et al.
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Jurgen Bauer et al.
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William S. Garver et al.
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James E. Wraith et al.
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M. Pineda et al.
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Niemann-Pick disease type C
Marie T. Vanier
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Forbes D. Porter et al.
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Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C
M. Walterfang et al.
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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
M. Pineda et al.
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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
J. E. Wraith et al.
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Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
F. Sedel et al.
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Marc C. Patterson et al.
LANCET NEUROLOGY (2007)
The National Niemann-Pick C1 Disease Database: Report of clinical features and health problems
William S. Garver et al.
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The adult form of Niemann-Pick disease type C
Mathieu Sevin et al.
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Niemann-Pick type C disease in a 68-year-old patient
G. Trendelenburg et al.
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Adult onset Niemann-Pick disease type C presenting with psychosis
KA Josephs et al.
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J Imrie et al.
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J Imrie et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2001)
Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene et al.
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