运动障碍伴铜代谢异常1例报告并文献复习。

K Araki, I Tachibana, Y Ueda, K Kashima
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引用次数: 2

摘要

我们描述了一种神经系统疾病,见于同卵双胞胎的姐姐,伴有构音障碍,不自主运动,步态痉挛,血清铜轻度低,血清铜蓝蛋白低至正常的边缘,尿铜正常,头发铜浓度高。这种神经系统疾病似乎不同于其他与铜代谢异常有关的疾病,如威尔逊氏病或门克斯氏病。
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Movement disorder with abnormal copper metabolism--a case report and review of the literature.

We describe a neurological disease, seen in the elder sister of identical twins, with dysarthria, involuntary movements, spastic gait, slightly low serum copper, borderline low to normal serum ceruloplasmin, normal urinary copper, and a high hair copper concentration. This neurological disorder appears to differ from others associated with abnormal copper metabolism such as Wilson's or Menkes' kinky hair disease.

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