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妊娠合并肝豆状核变性4例并文献复习 被引量:4

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摘要 肝豆状核变性(hepatolenticular degeneration,HLD)即Wilson病(Wilson’s disease,WD),是常染色体隐性遗传病,其根本病因是机体铜代谢障碍导致机体内各器官功能异常,患者的临床症状主要为角膜色素环(K-F环)、肝硬化和大脑基底节软化、变性。
出处 《江西医药》 CAS 2015年第6期564-566,共3页 Jiangxi Medical Journal
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参考文献8

  • 1Ferenci P. Regional distribution of mutations of the ATVTB gene in patients with Wilson disease:impact on genetic testing [J]. Hum Genet, 2006,120(2) : 151-159.
  • 2Malik A,Khawaja A1,Sheikh L. Wilson's disease in pregnancy: case series and review of literature [J]. BMC Res Notes,2013,6:421.
  • 3谢爱兰,曹淑华,王玉环.肝豆状核变性合并妊娠四例分析[J].中华围产医学杂志,2010,13(3):227-228. 被引量:3
  • 4Mustafa MS,Shamina AH. Five successful deliveries following 9 consecutive spontaneous abortions in a patient with Wilson disease [J].Aust NZJ Obstet Gynaecol, 1998,38:312-314.
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  • 8黄丽素,刘晓青,焦先婷,张雅芬.肝豆状核变性的产前诊断:附3例家系报告[J].临床儿科杂志,2008,26(11):955-958. 被引量:7

二级参考文献16

  • 1Pfeiffer RF. Wilson's disease[J]. Semin Neurol,2007,27 (2) : 123-132.
  • 2Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease:impact on genetic testing [J]. Hum Genet,2006,120(2) : 151-159.
  • 3Zhang KY, Tung BY, Kowdley KV. Liver transplantation for metabolic liver diseases [J]. Clin Liver Dis,2007,11 (2) :265-281.
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  • 5de Bie P, Muller P, Wijmenga C, et al. Molecular pathogenesis of Wilson and Menkes disease : correlation of mutations with molecular defects and disease phenotypes [J]. J Med Genet,2007,44(11 ):673-688.
  • 6Medici V,Rossaro L,Sturniolo GC. Wilson disease:a practical approach to diagnosis, treatment and follow-up [J]. Dig Liver Dis ,2007,39(7) :601-609.
  • 7Liu TT, Hsiao KJ, Lu SF, et al. Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency [J]. Hum Mutat, 1998,11 ( 1 ) :76-83.
  • 8Bobba A, Marra E, Fathallahb DM, et al. Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients [J ] . Mol Cell Probes, 2003,17(6) :271-274.
  • 9Durand F. Wilson's disease: an old disease keeps its old secrets [J]. Eur J Gastroenterol Hepatol,2007,19(2) :97- 99.
  • 10Tarnacka B,Rodo M,Cichy S,et al.Procreation ability in Wilson's disease.Acta Neurol Seand,2000,101:395-398.

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