转甲状腺素蛋白相关性家族性淀粉样多发性神经病研究进展

Journal of Community Medicine(2017)

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Abstract
转甲状腺素蛋白相关性家族性淀粉样多发性神经病(transthyretin-related familial amyloidotic polyneuropathy,TTR-FAP)是家族性淀粉样多发性神经病中最常见也是最严重的一种类型,是对患者造成生命威胁的遗传性神经退行性疾病.本文对TTR-FAP的基因突变特点、发病率、临床表现、诊断方法、现有的治疗措施作一综述.
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