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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
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