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Fabry病与卒中 被引量：4

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摘要 越来越多的证据表明，脑血管病是遗传和环境因素共同作用的结果。大量流行病学调查显示，脑血管病具有明显遗传倾向，且遗传因素在发病过程中起着重要作用。
作者 鲁明 樊东升
机构地区 北京大学第三医院神经内科
出处 《中国卒中杂志》 2012年第2期114-119,共6页 Chinese Journal of Stroke
基金 北京市科委科技计划重大项目(2010001-1) 卫生部临床学科重点项目(63488-21)资助课题
关键词 法布里病 卒中 遗传 治疗
分类号 R743.3 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献6

  • 1吴伦比,黄昱.非典型Fabry病与肥厚型心肌病[J].中华心血管病杂志,2010,38(9):856-858. 被引量：2
  • 2Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 1:Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes[J]. Arch Neurol, 2010, 67:19-24.
  • 3Linthorst GE, Poorthuis BJ. Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results[J]. J Am Coll Cardiol, 2008, 51:2082.
  • 4Lin HY, Chong KW, Hsu JH, et al. High incidence of the ardiac variant of fabry disease revealed by newborn screening in the Taiwan Chinese population[J]. Circulation, 2009, 2:450-456.
  • 5孟岩,张为民,施惠平,魏珉,黄尚志.16例经典型Fabry病患者的临床表现和基因突变分析[J].中华医学杂志,2010,90(8):551-554. 被引量：9
  • 6Imbriaco M, Pisani A, Spinelli L, et al. Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease:a prospective long-term cardiac magnetic resonance imaging study[J]. Heart, 2009, 95:1103-1107.

二级参考文献43

  • 1刘文玲,胡大一.肥厚型心肌病的分子遗传学诊断与危险分层[J].中国心脏起搏与心电生理杂志,2004,18(5):388-389. 被引量：3
  • 2Desnick R,Ioannou Y,Eng C,et al.Alpha-galactosidase a deficiency:fnhry disease//Scriver CR,Beaudet AL,Sly WS,et al.The metabolic and molecular bases of inherited disease.8th.New York:McGraw-Hill,2001:3733-3774.
  • 3Gannan SC,Garboczi DN,et al.The molecular defect leading to Fabry disease:structure of human alpha-galectesidase.J Mol Biol,2004,337:319-335.
  • 4Mehta A,Ricci R,Widmer U,et al.Fabry disease defined:baseline clinical manifestations of 366 patients in the Fabry outcome survey.Eur J Clin Invest,2004,34:236-242.
  • 5Eng CM,Fletcher J,Wilcox WR,et al.Fabry disease:baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry.J Inherit Metab Dis,2007,30:184-192.
  • 6Orssaud C,Dufer J,Germain D.Ocular manifestations in Fabry disease:a survey of 32 hemizygous male patients.Ophthalmic Genet,2003,24:129-139.
  • 7Grunfeld J,Lidove O,Joly D,et al.Renal disease in Fnhry patients.J Inherit Metab Dis,2001,24:71-74.
  • 8Kampmann C,Baehner F,Whybra C,et al.Cardiac manifestations of Anderson-Fabry disease in heterozygous females.J Am Coll Cardiol,2002,40:1668-1674.
  • 9Wilcox WR,Ohveira JP,Hopkin RJ,et al.Females with Xlinked Fabry disease frequently have significant organ involvement.Mol Genet Metab,2008,93:112-128.
  • 10Schiffmann R,Ries M,Timmous M,et al.Long-term therapy with agalsidase alfa for Fabry disease:safety and effects on renal function in a home infusion setting.Nephrol Dial Transplant,2006,21:345-354.

共引文献9

同被引文献91

  • 1吴美华,李华泰.卵圆孔未闭的研究进展[J].心血管病学进展,2007,28(1):122-124. 被引量：12
  • 2中华医学会呼吸病学分会睡眠呼吸障碍学组.阻塞性睡眠吸暂停低通气综合征诊治指南(2011年修订版)[J].中华结核和呼吸杂志,2012,35(1):912.
  • 3Boiten J, Lodder J, Kessels F. Two clinically distinct lacunar infarct entities? A hypothesis[J]. Stroke, 1993, 24:652-656.
  • 4O'Sullivan M, Lythgne D J, Pereira AC, et al. Patterns of cerebral blood flow reduction in patients with ischemic leukoaraiesis[J]. Neurology, 2002, 59:321- 326.
  • 5Terborg C, Gora F, Weiller C, et al. Reduced vasomotor reactivity in cerebral microangiopathy:a study with near-infrared spectroscopy and transcranial Doppler sonography[J]. Stroke, 2000, 31:924-929.
  • 6Arboix A, Marti-Vilaha JL. Lacunar stroke[J]. Expert Rev Neurother, 2009, 9:179-196.
  • 7Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen(COL4A1) mutations:a novel genetic multisystem disease[J]. Curr Opin Neurol, 2011 24:63-68.
  • 8de Vries LS, Mancini GM. Intracerebra! hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood[J]. Ann Neurol, 2012, 71:439-441.
  • 9Lemmens R, Maugeri A, Niessen HW, et al. Novel COL4AI mutations cause cerebral small vessel disease by haploinsufficiency[J]. Hum Mol Genet 2013, 22:391-397.
  • 10彭寿雄,周文炳.临床青光眼[M].第2版北京:人民卫生出版社,2000:310-314.

引证文献4

二级引证文献22

中国卒中杂志
2012年 第2期

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