Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease.

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作者： Jussi O T,Sipilä ^[1] ; Laura,Kytövuori ^[2] ; Valtteri,Kaasinen ^[3]

作者单位： Clinical Neurosciences, University of Turku, Turku, Finland; Department of Neurology, Siun Sote North Karelia Central Hospital, Joensuu, Finland. Electronic address: jussi.sipila@utu.fi. ^[1] Research Unit of Clinical Medicine, Medical Research Center Oulu, Finland; Neurocenter, Neurology, Oulu University Hospital and University of Oulu, Oulu, Finland. ^[2] Clinical Neurosciences, University of Turku, Turku, Finland; Neurocenter, Turku University Hospital, Turku, Finland. ^[3]

关键词 Clinical neurology Hepatolenticular degeneration Hepatology Hereditary neurodegenerative diseases Neuroepidemiology Neurogenetics

主题词人类(Humans);肝豆状核变性(Hepatolenticular Degeneration);回顾性研究(Retrospective Studies);芬兰(Finland);表型(Phenotype);遗传关联研究(Genetic Association Studies)

DOI 10.1016/j.jns.2023.120620

PMID 36966606

发布时间 2023-04-24

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准确一般字义偏差语意偏离译文作用小提交