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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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| Publicado en: | Pract Neurol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Publishing Group
2019
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| Assuntos: | |
| Acceso en liña: | 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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