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中英关联术语

肝豆状核变性

Hepatolenticular Degeneration

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A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D006527 · MeSH 2026。

Courtesy of the U.S. National Library of Medicine. Annual snapshot; later updates may not be reflected. NLM does not endorse this service.

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