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戈谢病临床诊断研究进展 被引量：10

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摘要 戈谢病（Gaucher disease）是一种常染色体隐性遗传病,又称葡萄糖神经酰胺贮积病,1882年由法国医生Gaucher首先报道而得名.戈谢病临床症状广泛,常见症状为不明原因的脾肿大、肝肿大、贫血、血小板减少、骨痛、神经系统病变等,但上述症状并非戈谢病所独有.因此仅凭临床症状无法实现确诊.近年来,随着对戈谢病病因学认识的不断加深和研究的深入,国内外戈谢病的临床诊断方面涌现了许多最新研究成果.现将戈谢病的诊断技术和诊断路径的研究进展综述如下.
作者 张永红 罗学群 邱正庆
机构地区 首都医科大学附属北京儿童医院血液科 中山大学附属第一医院儿科血液科 中国医学科学院北京协和医学院北京协和医院儿科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2015年第4期313-315,共3页 Chinese Journal of Pediatrics
关键词 临床诊断 戈谢病 常染色体隐性遗传病 临床症状 神经系统病变 血小板减少 神经酰胺 不明原因
分类号 R725.9 [医药卫生—儿科]
  • 相关文献

参考文献20

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二级参考文献33

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共引文献27

同被引文献37

  • 1张超(综述),杨跃煌(审校).戈谢病的治疗进展[J].医学信息（医学与计算机应用）,2014,0(23):655-656. 被引量：1
  • 2William L Simpson,George Hermann,Manisha Balwani.Imaging of gaucher disease[J].World Journal of Radiology,2014,6(9):657-668. 被引量：3
  • 3段彦龙,张永红,臧晏,施惠平,张为民,胡亚美.酶替代治疗戈谢病72例[J].中华儿科杂志,2006,44(9):653-656. 被引量：35
  • 4NAGRAL A.Gaucher disease[J].Journal of clinical and experimental hepatology,2014,4(1):37-50.doi:10.1016/j.jceh.
  • 5KOMNINAKA V,KOLOMODI D,CHRISTOULAS D,et al.Evaluation of bone involvement in patients with Gaucher disease:a semiquantitative magnetic resonance imaging method(using ROI estimation of bone lesion)as an alternative method to semi-quantitative methods used so far[J].European journal of haematology,2015,95(4):342-351.doi:10.1111/ejh.12504.
  • 6THOMAS A S,MEHTA A,HUGHES D A.Gaucher disease:haematological presentations and complications[J].British journal of haematology,2014,165(4):427440.doi:10.1111/bjh.12804.
  • 7KAMATH R S,LUKINA E,WATMAN N,et al.Skeletal improvement in patients with Gaucher disease type 1:a phase 2 trial of oral eliglustat[J].Skeletal radiology,2014,43(10):1353-1360.doi:10.1007/s00256-014-1891-9.
  • 8DANDANA A,BEN KHELIFA S,CHAHED H,et al.Gaucher disease:clinical,biological and therapeutic aspects[J].Pathobiology:journal of immunopathology,molecular and cellular biology,2016,83(1):13-23.doi:10.1159/000440865.
  • 9ROSENBAUM H.Hemorrhagic aspects of Gaucher disease[J].Rambam Maimonides Medical Journal,2014,5(4):e0039.doi:10.5041/rmmj.10173.
  • 10LINARl S,CASTAMAN G.Hematological manifestations and complications of Gaucher disease[J].Expert review of hematology,2016,9(1):51-58.doi:10.1586/17474086.2016.1112732.

引证文献10

二级引证文献13

中华儿科杂志
2015年 第4期

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