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Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't 
Autor(en):
Werning, Maike; Müllner, Ernst W; Mlynek, Georg; Dobretzberger, Verena; Djinovic-Carugo, Kristina; Baron, David M; Prokisch, Holger; Büchner, Boriana; Klopstock, Thomas; Salzer, Ulrich 
Titel:
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. 
Abstract:
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 (acanthocytes). The aim of this study was to assess residual activity of PANK2 in erythrocytes of PKAN patients and to correlate these data with the type of PANK2 mutations and the progression of neurodegen...    »
 
Zeitschriftentitel:
Ann Clin Transl Neurol 
Jahr:
2020 
Band / Volume:
Heft / Issue:
Seitenangaben Beitrag:
1340-1351 
Volltext / DOI:
TUM Einrichtung:
617; Institut für Humangenetik