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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...
שמור ב:
| הוצא לאור ב: | Neurol Int |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
PAGEPress Publications, Pavia, Italy
2018
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5937219/ https://ncbi.nlm.nih.gov/pubmed/29844889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/ni.2018.7516 |
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