期刊文献+

家族性淀粉样变性多发神经病家系的产前基因诊断一例并文献复习

原文传递
导出
摘要 家族性淀粉佯变性多发神经病(iimdlialamyloidpolyneuropathy。FAP)是以细胞外特异性淀粉样物质聚集、主要累及外周神经和自主神经系统为特征的常染色体{ll!.性遗传性神经系统疾病。,是具有广泛种族分部的家族性综合征。FAP的临床症状多样,主要农现为进行性的周同运动神经和感觉冲经障碍,以及自主神经功能异常,可出现肾病综合征、充岍陛心功能衰竭、心律火常等。
出处 《中华妇产科杂志》 CAS CSCD 北大核心 2011年第11期860-861,共2页 Chinese Journal of Obstetrics and Gynecology
基金 江苏省人小厅“六大人才高峰”资助项目(2008-D30) 南京市医学科技发展承大项目(基因病产前诊断技术平台的建立)
  • 相关文献

参考文献5

  • 1Ando Y, Araki S, Ando M. Transthyretin and familial alnyh,idotic polyneuropathy. Intern Med, 1993, 32:920-922.
  • 2Saraiva MJ. Transthyrelin mutations in health arid disease. Itum Mulal, 1995, 5:191-196.
  • 3李颖.家族性淀粉样多发性神经病[J].国外医学(神经病学.神经外科学分册),2003,30(2):122-125. 被引量:2
  • 4Zhang Y, Deng YL, Ma JF. el al. Transth,:retin-related hereditary amyloidosis in a Chinese family with TVFI'I YI14C mutation. Neurodegenerative Dis, 2011, 8:187-193,.
  • 5许争峰,胡娅莉,朱瑞芳.高效羊水细胞培养技术在产前诊断中的应用[J].中华妇产科杂志,2006,41(4):275-276. 被引量:30

二级参考文献24

  • 1Tanaka K,Yamada T,Ohyagi Y,et al.Suppression of transthyretin expression by ribozymes:a possibly therapy for familial amyloidotic polyneuropathy.J Neurol Sci,2001,183(1):79-84.
  • 2Violaine PB,Said G. Transthyretin related familial amyloid polyneuropathy.Current Opinion in Neurology,2000,13:569- 573.
  • 3Hita VG,Hita RE,Lopez CP,et al.Codno- Andrade disease(Familial amyloidotic polineuropathy type I) in Spain:urological and andrological disorders. Neurourol Urodyn,1997,16( 1 ) : 55 - 61.
  • 4Bittencourt PL,Couto CA,Farias AQ,et al. Results af liver transplantation for familial amyloid polyneuropsthy type I in brazil. Liver Transpl,2002,8(1):34-39.
  • 5Refetoff S,Marinov VS,Tunca H, et al.A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone - a clinical research center study. J Clin Endocrinol Metab, 1996,81(9) :3335 - 3340.
  • 6Ando Y. Analyses af amyloid formation mechanism in familial amyloidotic polyneuropathy and therapeutic trial.Rinsho Byori,2000,48(5): 425 -429.
  • 7Mamede de C, Paulo M, Teresinha E, et al. New transthyretin mutation V28m in a portuguese kindred with amyloid polyneuropathy. Muscle Nerve.2000.23:1016-1021.
  • 8Liu K, Kelly JW, Wemmer DE. Native state hydrogen exchange study of suppvessor and pathogenic variants of transthyretin.J Mol Biol,2002,320(4) :821 - 832.
  • 9Manry CP, Liliestrom M, Boysen G, et al. Denish type gelsolin related amyloidsis:654G- T mutation is associated with a disease pathogeneti-cally and clinically similar to that caused by the 654G - A mutation ( familial amyloidoeis of the Finnish type) .J Clin Pathol,2000, 53(2) :95 -99.
  • 10Gillmore JD, Stangou AJ, Tennent GA, et al. Clinical and biochemeal outcome of hepatorenal transplantation for hereditary systemic amyloidosis associated with apolipoprotein AI Gly26Arg. Transplantation,2001,71(7):986-992.

共引文献30

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部