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Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder

Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. There have been recent developments in testing that make diagnosis easier and new therapies...

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Detalhes bibliográficos
Publicado no:Pract Neurol
Main Authors: Lad, Meher, Thomas, Rhys H, Anderson, Kirstie, Griffiths, Timothy D
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6839726/
https://ncbi.nlm.nih.gov/pubmed/31243140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/practneurol-2019-002236
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