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Exploring the pathophysiological mechanisms and wet biomarkers of VPS13A disease

VPS13A disease (also known as Chorea-Acanthocytosis, ChAc) is a representative subtype of the neuroacanthocytosis (NA) syndromes, characterized by neurodegeneration in the central nervous system and acanthocytosis in peripheral blood. It is a rare autosomal recessive genetic disorder caused by loss-...

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Principais autores: Jingqi Lin, Hongmei Meng, Nilupaer Shafeng, Jiaai Li, Huaiyu Sun, Xi Yang, Zhiqing Chen, Shuai Hou
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2024-11-01
Colecção:Frontiers in Neurology
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Acesso em linha:https://www.frontiersin.org/articles/10.3389/fneur.2024.1482936/full
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