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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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Detalles Bibliográficos
Autores principales:	Lad, Meher, Thomas, Rhys H, Anderson, Kirstie, Griffiths, Timothy D
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2019
Materias:	Neurological Rarities
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839726/ https://www.ncbi.nlm.nih.gov/pubmed/31243140 http://dx.doi.org/10.1136/practneurol-2019-002236

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