Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes

IntroductionThe unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted the exploration of osmotic gradient ektacytometry (Osmoscan) as a diagnostic tool for these disorders. In this exploratory study, we assessed if Osmoscans can discrimin...

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出版年:	Frontiers in Neuroscience
主要な著者:	Carolina A. Hernández, Kevin Peikert, Min Qiao, Alexis Darras, Jonathan R. A. de Wilde, Jennifer Bos, Maya Leibowitz, Ian Galea, Christian Wagner, Minke A. E. Rab, Ruth H. Walker, Andreas Hermann, Eduard J. van Beers, Richard van Wijk, Lars Kaestner
フォーマット:	論文
言語:	英語
出版事項:	Frontiers Media S.A. 2024-07-01
主題:	VPS13A disease XK disease neurodegeneration RBC deformability ektacytometry Osmoscan
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fnins.2024.1406969/full