寿命与门克斯卷发综合征：关于该疾病13年病程的报告。

Life-span and Menkes kinky hair syndrome: report of a 13-year course of this disease.

作者信息

Sander C, Niederhoff H, Horn N

机构信息

Children's Hospital, Baden-Baden, FRG.

出版信息

Clin Genet. 1988 Mar;33(3):228-33. doi: 10.1111/j.1399-0004.1988.tb03441.x.

DOI:10.1111/j.1399-0004.1988.tb03441.x

PMID:3359680

Abstract

The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up.

摘要

结合一名患门克斯综合征活到13.5岁的男孩，讨论了门克斯综合征患者的寿命。描述了铜代谢缺陷。总结了主要是铜替代的治疗试验及前景。