Diagnosis of copper transport disorders.
Diagnosis of copper transport disorders.
复制标题
诊断铜运输障碍。
DOI：
10.1002/0471142905.hg1709s70
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发表时间：
2011-07
影响因子：
--
通讯作者：
Kaler, Stephen G
中科院分区：
文献类型：
--
作者：
Moller, Lisbeth B;Hicks, Julia D;Holmes, Courtney S;Goldstein, David S;Brendl, Cornelia;Huppke, Peter;Kaler, Stephen G
铜转运障碍的诊断技术越来越重要，由于最近认识到以前不受重视的临床表型和新兴的进展，在这些条件的治疗。在这里，我们整理的诊断方法和技术，目前采用的生化和分子评估的风险个人在异常铜代谢被怀疑。
Techniques for the diagnosis of copper transport disorders are increasingly important due to recent recognition of previously unappreciated clinical phenotypes and emerging advances in the treatment of these conditions. Here, we collate the diagnostic approaches and techniques currently employed for biochemical and molecular assessment of at-risk individuals in whom abnormal copper metabolism is suspected.