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门克斯卷发综合征:这是一种可治疗的疾病吗?

Menkes kinky hair syndrome: Is it a treatable disorder?

作者信息

Garnica A D, Frias J L, Rennert O M

出版信息

Clin Genet. 1977 Feb;11(2):154-61. doi: 10.1111/j.1399-0004.1977.tb01294.x.

Abstract

A male infant with Menkes Kinky Hair Syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.

摘要

一名患有门克斯卷发综合征的男婴接受了为期3周的醋酸铜输注治疗,在出现氨基酸尿症时治疗终止。该婴儿未见病情改善,这代表了在这种情况下肠外铜治疗的报道经验,可能归因于子宫内铜代谢存在临床上显著的异常。

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