遗传性转甲状腺素蛋白淀粉样变性的眼科表现

资源简介

遗传性转甲状腺素蛋白淀粉样变性的眼科表现

【数据集背景】

本数据集源站标题为《Ophthalmological manifestations of hereditary transthyretin amyloidosis》。配套论文《Ophthalmological manifestations of hereditary transthyretin amyloidosis》发表于 Arquivos Brasileiros de Oftalmologia（2022），DOI：10.5935/0004-2749.20220099。源站首次发布：2022-10-11。

【数据内容】

源站原始描述：ABSTRACT Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1). The mutations lead to abnormal amyloid deposits, mainly in the heart and peripheral nerves. Leptomeningeal and mainly ocular involvement is common. Although there are several different types of treatment available, ocular involvement, which occurs also in liver transplant r…

【数据结构与技术规格】

文件数 6 个，合计 251.04 KB。数据集 DOI：10.6084/m9.figshare.21310350.v1。

【主题与分类】

源站学科分类：Ophthalmology。主题标签：Cataract、Amyloidosis、familial、Glaucoma、Neuropathy、Transthyretin。

【适用方向】

源站学科分类标注为 Ophthalmology。

【获取与许可】

源站页面：https://scielo.figshare.com/articles/dataset/Ophthalmological_manifestations_of_hereditary_transthyretin_amyloidosis/21310350

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Gondim, Francisco de Assis Aquino; Holanda Filha, Joana Gurgel; Moraes Filho, Manoel Odorico (2022). Ophthalmological manifestations of hereditary transthyretin amyloidosis. SciELO journals. Dataset

【使用注意】

· 源站最后修改于 2023-06-13，引用时请注意版本时效。