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Objective To analyze the mutation characterization in exon 8 of ATP7B gene in Chinese Patients with Wilson disease.

目的 分析肝豆状核变性ATP7B基因8号外显子在中国人中的突变特点。

The clinical manifestations of 16 patients with hepatolenticular degeneration were analyzed.

摘 要:分析16例肝豆状核变性患者的临床表现。

Objective To discuss the values of various accessory examination in the diagnosis of hepatolenticular degeneration.

目的探讨各种辅助检查对肝豆状核变性的诊断价值。

Objective To investigate the changes of dynamic VEEG in patients with hepatolenticular degeneration.

目的探讨肝豆状核变性患者的动态视频脑电图变化。

Objective To analyze the brain MRI features of hepatolenticular degeneration and evaluate the diagnostic value of MRI.

目的分析肝豆状核变性脑部MRI表现,评价MRI对此病的诊断价值。

Hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabolism.

肝豆状核变性是一种铜代谢异常的遗传性疾病,肝移植是治疗Wilson's病的良好方法。

Objective: To explore the cytological mechanism of Gandou Decoction in treating hepatolenticular degeneration.

内容提要目的:在细胞水平探讨中药复方肝豆汤治疗肝豆状核变性的机理。

OBJECTIVE: To establish a hepatolenticular degeneration rat model with excessive copper, and investigate the effects of excessive copper deposits in the liver on hepatocyte apoptosis and Bax and Bcl-2 expression.

目的:建立肝豆状核变性铜过量负荷大鼠模型,并研究肝铜沉积对肝细胞凋亡及Bax,Bcl-2基因表达的影响。

Aim To explore the effect on the index of hepatic fibrosis in serumology by combined use of kushenin and decopper therapy in treating hepatolenticular degeneration.

目的探讨苦参素联合二巯基丙磺酸驱铜治疗对肝豆状核变性患者肝纤维化血清生化指标的影响。

Results: In the 13 cases, the CT diagnosis show that five cases of low-density lesions of Bilateral hepatolenticular, five cases of globus pallidus, one case of Bilateral hepatolenticular with corpus callosum, one cases of External capsule putamen, one case of Putamen with the caudate nucleus, three cases of low-density of Bilateral lobi frontalis and lobi parietalis, one case of unilateral putamen hemorrhage, three cases of cerebral atrophy.

目的 探讨双侧基底节区对称性低密度病变的CT诊断价值。方法回顾性分析肝豆状核变性5例、中毒性病变5例、Wernicke脑病2例、Huntington氏大舞蹈病1例的CT平扫表现及临床意义。结果 13例中,CT示双侧豆状核低密度5例、苍白球5例、双侧豆状核伴胼胝体1例、壳核伴外囊1例、壳核伴尾状核1例;双额顶叶低密度3例、单侧壳核出血1例、大脑萎缩3例。

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