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Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden–Spatz Syndrome (HSS), is a rare neurodegeneration with brain iron accumulation from pantothenate kinase 2 gene (PANK2) mutation characterized as extrapyramidal symptoms. However, few studies involving PKAN p...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358370/ https://www.ncbi.nlm.nih.gov/pubmed/30681573 http://dx.doi.org/10.1097/MD.0000000000014122 |