铜转运障碍的诊断
Diagnosis of copper transport disorders.
作者信息
Møller Lisbeth B, Hicks Julia D, Holmes Courtney S, Goldstein David S, Brendl Cornelia, Huppke Peter, Kaler Stephen G
机构信息
Kennedy Centre, Glostrup, Denmark.
出版信息
Curr Protoc Hum Genet. 2011 Jul;Chapter 17:Unit17.9. doi: 10.1002/0471142905.hg1709s70.
Abstract
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.
摘要
由于最近认识到以前未被重视的临床表型以及这些病症治疗方面的新进展，铜转运障碍的诊断技术变得越来越重要。在此，我们整理了目前用于对疑似铜代谢异常的高危个体进行生化和分子评估的诊断方法及技术。
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本文引用的文献
1
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Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180.
2
Menkes disease.Menkes 病。
Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4.
3
Wilson disease: current status and the future.威尔逊氏病：现状与未来
Biochimie. 2009 Oct;91(10):1278-81. doi: 10.1016/j.biochi.2009.07.012. Epub 2009 Jul 30.
4
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.门克斯病的分子诊断：基因型与表型的相关性
Biochimie. 2009 Oct;91(10):1273-7. doi: 10.1016/j.biochi.2009.05.011. Epub 2009 Jun 6.
5
Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease.血浆儿茶酚水平及比值在Menkes病新生儿诊断中的相对效率
Neurochem Res. 2009 Aug;34(8):1464-8. doi: 10.1007/s11064-009-9933-8. Epub 2009 Feb 21.
6
Neonatal diagnosis and treatment of Menkes disease.门克斯病的新生儿诊断与治疗。
N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.
7
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Mol Genet Metab. 2005 Aug;85(4):291-300. doi: 10.1016/j.ymgme.2005.04.007.
8
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9
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Biol Trace Elem Res. 1999 Winter;71-72:551-61. doi: 10.1007/BF02784243.
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