论文部分内容阅读
肝豆状核变性(HLD)是一种常染色体隐性遗传的铜代谢障碍性疾病,其症状复杂多样,误诊率高达61.2%。在神经系统单基因遗传病中占有重要地位。现将本院自1972年2月～1988年4月共收治的42例报道分析如下。
Hepatolenticular degeneration (HLD) is an autosomal recessive copper metabolism disorder with complex and diverse symptoms, with a misdiagnosis rate of 61.2%. In the nervous system monogenic genetic disease occupies an important position. The hospital now from February 1972 to April 1988 were treated 42 cases reported as follows.