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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Main Authors: | , , , , , |
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Format: | Book |
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MDPI AG,
2018-04-01T00:00:00Z.
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A1234.567 |
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