精彩推荐:青光眼 白内障 近视 远视 散光 斜视弱视 角膜溃疡 角膜炎 沙眼 眼外伤 更多疾病
大众频道
专业频道
时尚频道
互动频道
疾 病 | 保 健 | 爱眼动态 | 名医名院
知 识 | 美 食 | 自检自测 | 爱眼纪事
资 讯 | 临 床 | 学 术 | 文 献
图 谱 | 医 患 | 继 教 | 家 园
五官之美 | 整 形 | 美 容
眼镜一族 | 妆 容 | 图 库
眼科在线 | 预留位置
眼科知道 | 在线咨询
  当前位置:当前位置: 中华眼科在线 → 医学频道 → 文献 → 正文 切换到繁體中文 用户登录 新用户注册
Fabry病的眼科表现

http://www.cnophol.com 2009-5-22 10:45:54 中华眼科在线

【参考文献】
    1 Brady RO,Gal AE,Bradley RM. Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Eng J Med 1967;276(21):11631167

  2 Mehta 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(3):236242

  3 Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol2002;13 (Suppl 2): S130133

  4张苏华,尹广. Fabry 病及其酶替代疗法. 肾脏病与透析肾移植杂志 2004;13(6):560566

  5 Peters FP,Vermeulen A,Kho TL. AndersonFabry’s disease: alpha galactosidase deficiency. Lancet 2001;357(9250):138140

  6 Font RL, Fine BS.Ocular pathology in fabry’s disease. Histochemical and electron microscopic observations. Am J Ophthalmol1972;73(3):419430

  7 Witschel H, Mathyl. Morphological bases of the specific ocular changes in Fabry’s disease. Klin Monatsbl Augenheilkd 1969;154(4):599605

  8 Whybra C, Kampmann C, Willers I, et al. AndersonFabry disease :clinical manifestations of disease in female heterozygotes. J Inherit metab Dis2001;24(7):715724

  9 Farge D, Nadler S, Wolfe LS, et al. Diagnostic value of kidney biopsy in heterozygous Fabry’s disease. Arch Pathol Lab Med1985;109(1):8588

  10 Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Ophthalmol 1979;97(4):671676

  11 Orssaud C, Dufier J, Germain D.Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients. Ophthalmic Genet 2003;24(3):129139

  12 Nguyen TT, Gin T, Nicholls K, et al. Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol2005;33(2):164168

  13 Samiy N.Ocular Features of fabry disease: diagnosis of a treatable lifethreatening disorder. Surv Ophthalmol2008;53(4):416423

  14 Spaeth GL, Frost P. Fabry’s disease. Its ocular manifestations. Arch Ophthalmol1965;74(6):760769

  15 Andersen MV, Dahl H, Fledelius H, et al. Central retinal artery occlusion in a patient with Fabrys disease documented by scanning laser ophthalmoscopy. Acta Ophthalmol(Copenh) 1994;72(5):635638

  16 Hirano K, Murata K, Miyagawa A, et al. Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry’s disease. Cornea 2001;20(2):233236

  17 Dantas MA, Fonseca RA, Kaga T, et al. Retinal and choroidal vascular changes in heterozygous Fabry disease. Retina 2001;21(11):8789

  18 Oto S, Kart H, Kadayifcilar S, et al. Retinal vein occlusion in a woman with heterozygous Fabry’s disease. Eur J Ophthalmol1998;8(4):265267

  19 Sher NA, Reiff W, Letson RD, et al. Central retinal artery occlusion complicating Fabry’s disease. Arch Ophthalmol1978;96(5):815817

  20 Galanos J, Nicholls K, Grigg L, et al. Clinical features of Fabry’s disease in Australian patients. Intern Med J 2002;32(12):575584

  21 MacDermot KD, Holmes A, Miners AH.AndersonFabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38(11):750760

  22 Ries M, Moore DF, Robinson CJ, et al. Quantitative dysmorphology assessment in Fabry disease. Genet Med2006;8(2):96101

  23 Alroy J ,Sabnis S ,Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol2002;13(Suppl 2):S134138

  24 Sakuraba H ,Oshima A ,Fukuhara Y, et al. Identification of point mutations in the alpha  galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet1990;47(5):784789

  25 李秋芬,胡云琴,鲁盈. Fabry 病4例报道并文献复习.中国中西医结合肾病杂志2007;8(10):594595

  26 Whybra C ,Kampmann C ,Willers I , et al. AndersonFabry disease:clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis2001;24(7) :715724

  27 Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43(4): 347352

  28 Ramaswami U, Whybra C, Parini R, et al.FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006;95(1): 8692

  29 Eng 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(2):184192

  30 Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease.influence of alphagalactosidase A activity and genetic mutations on clinical course. Medicine(Baltimore)2002;81(27):122138

  31 Vedder AC, Linthorst GE, Houge G, et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2007;2(7): e598

  32 Linthorst GE, Hollak CE, DonkerKoopman WE, et al. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 2004;66(4): 15891595

  33 Sakuraba H, MurataOhsawa M, Kawashima I, et al. Comparison of the eff ects of agalsidase alfa and agalsidase beta on cultured human Fabry fi broblasts and Fabry mice. J Hum Genet 2006;51(3): 180188

  34 Breunig F ,Weidemann F ,Beer M, et al. Fabry disease : diagnosis and treatment. kidney Int2003;63(Suppl 84):S181185

上一页  [1] [2] 

(来源:首席医学网)(责编:zhanghui)

发表评论】【加入收藏】【告诉好友】【打印此文】【关闭窗口
  • 下一条信息: 没有了
  • 更多关于(眼科,眼睛,中华眼科在线,Fabry病,病因学,眼科表现)的信息
      热门图文

    学化性感眼妆让诱惑电

    决定女人健康的14个部

    祛除鱼尾纹so easy

    增加眼睛明亮度的八个
      健康新看点
      健康多视点
      图话健康

    Copyright © 2007 中华眼科在线 网站备案序列号: 京ICP备08009675号
    本网站由五景药业主办 北京金鼎盛世医学传媒机构负责运营 国家医学教育发展中心提供学术支持
    服务电话:010-63330565 服务邮箱: [email protected]