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PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes
OBJECTIVE: Pantothenate kinase 2‐associated neurodegeneration (PKAN) is a rare neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene. PKAN is associated with iron deposition in the basal ganglia and, occasionally, with the occurrence of misshaped erythrocytes (acant...
Autores principales: | Werning, Maike, Müllner, Ernst W., Mlynek, Georg, Dobretzberger, Verena, Djinovic‐Carugo, Kristina, Baron, David M., Prokisch, Holger, Büchner, Boriana, Klopstock, Thomas, Salzer, Ulrich |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448160/ https://www.ncbi.nlm.nih.gov/pubmed/32705819 http://dx.doi.org/10.1002/acn3.51127 |
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