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Research article

First published 2012-12

Niemann-Pick Disease Type C: Implications for Sedation and Anesthesia for Diagnostic Procedures

Ning Miao, Xiaowei Lu, Naomi P. O’Grady [...]

Journal of Child Neurology

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Other

First published 2011-4

An Unusual Presentation of Copper Metabolism Disorder and a Possible Connection With Niemann-Pick Type C

Helly R. Goez, Francois D. Jacob, Robert D. Fealey [...]

Journal of Child Neurology

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Other

First published 2010-03

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

Marc C. Patterson, Darleen Vecchio, Elizabeth Jacklin [...]

Journal of Child Neurology

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Research article

First published 2013-12

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C

Parvaneh Karimzadeh, Seyed Hassan Tonekaboni, Mahmoud Reza Ashrafi [...]

Journal of Child Neurology

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Research article

First published 2014-9

Niemann–Pick Disease Type C

Daozhan Yu, Manju Swaroop, Mengqiao Wang [...]

Journal of Biomolecular Screening

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Research article

First published 2026-1

Convergent Validity of the Fine Motor,Speech,and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale

Cristan Farmer, Monica Lewis, Nicole Farhat [...]

Journal of Child Neurology

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Research article

First published 2016-12-6

Role of Niemann-Pick Type C Disease Mutations in Dementia

Chiara Cupidi, Francesca Frangipane, Maura Gallo [...]

Journal of Alzheimer’s Disease

Free access

Review article

First published 2016-5

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease

Apostolos Papandreou, Paul Gissen

Therapeutic Advances in Neurological Disorders

Open access

Research article

First published 2015

Distinct Niemann-Pick Disease Type C Clinical,Cytological,and Biochemical Phenotype in an Adult Patient With 1 Mutated,Overexpressed NPC1 Allele

Julia Jecel, Klaus Harzer, Eduard Paschke [...]

Journal of Inborn Errors of Metabolism and Screening

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Research article

First published 2021-09-28

Niemann-Pick Type C 1 ( NPC1 ) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition

Federica Sorrentino, Andrea Arighi, Maria Serpente [...]

Journal of Alzheimer’s Disease

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