期刊文献+

戈谢病1例报告并文献复习 被引量:3

Report One Case of Gaucher Disease and References Review
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摘要 目的:探讨戈谢病(GD)的临床及血液学特点。方法:对1例GD患者的资料进行分析,并对文献进行复习。结果:此例为1型,是GD的常见类型。具有较典型的临床及血液学特征。结论:此病很少见,以支持治疗为基础,有条件者尽早予酶替代治疗。临床易误诊,注意鉴别诊断。 Objective.To discuss the clinical & haematological characteristics of Gaucher disease (GD). Methods: To figure out the materials of a case of GD and then to review the references. Result :This ease belong to the common type (type 1 ) which has the typically characteristics of clinic & haematology. Conclusion :This disease is very rare and the sufferer should be taken the support treatment as the foundation. Some of conditioned sufferer should use the enzyme replacement therapy to cure it as earlier as they can. GD is easily to be misdiagnosed and the physicians should be care of that.
出处 《中国误诊学杂志》 CAS 2006年第2期206-208,共3页 Chinese Journal of Misdiagnostics
关键词 戈谢病/诊断 Gaucher disease/diagnosis
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参考文献15

  • 1Stirnemann J ,Caubel I, Kettaneh A,et al. Epidemiologic ,clinical,biological and therapeutic aspects of Gaucher disease[J]. Presse Med,2003,32(11) :503-511.
  • 2彭大恩 林宝爵 阮长耿主编.类脂质沉积病[A].林宝爵,阮长耿主编.血液学[M].北京:北京出版社,1998.154-155.
  • 3王秀敏,梁黎.戈谢病12例临床分析[J].浙江预防医学,2005,17(4):43-43. 被引量:5
  • 4侯琳,Ohno Kousaku.F213I突变型高雪氏病分子伴侣治疗方法的研究[J].中华医学遗传学杂志,2003,20(5):381-384. 被引量:11
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  • 8臧晏,赵辉,施惠平,胡亚美.酶制剂Cerezyme治疗戈谢病14例报告[J].中华儿科杂志,2001,39(8):500-502. 被引量:4
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二级参考文献29

  • 1Patrick AD. A deficiency of glucocerebrosidase in Gaucher's disease. Biochem J, 1965,97 , 17-18.
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二级引证文献8

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