Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and dementia. The hallmark of thi...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI AG
2018-04-01
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| coleção: | Neurology International |
| Assuntos: | |
| Acesso em linha: | http://www.pagepress.org/journals/index.php/ni/article/view/7516 |
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