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Anderson-Fabry病研究进展 被引量：4

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摘要 Anderson-Fabry病(Anderson-Fabry Disease, AFD)又称为Fabry病,是X连锁隐性遗传的溶酶体病,患者因缺乏α-半乳糖苷酶A(α-Gal A),致使糖鞘脂成分如神经酰胺三己糖苷(CTH)或globotriaosylce-ramide(Gb3)、二乳糖苷神经酰胺等堆积于体内各器官,引起临床表现.
作者 吴升华 何祚光
机构地区 南京医科大学第一附属医院儿科
出处 《南京医科大学学报（自然科学版）》 CAS CSCD 北大核心 2003年第6期642-645,共4页 Journal of Nanjing Medical University(Natural Sciences)
关键词 Anderson—Fabry病 糖鞘脂 Α-半乳糖苷酶A 治疗
分类号 R394 [医药卫生—医学遗传学] Q347 [生物学—遗传学]
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参考文献18

  • 1Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease [J] . J Am Soc Nephrol, 2002, 13(suppl 2) :S130-S133.
  • 2Branton M, Schiffmann R, Kopp JB. Natural history and treatment of renal involvement in Fabry disease [J]. J Am Soc Nephrol,2002,13(suppl 2) :S139 - S143.
  • 3Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease[J] . J Am Soc Nephrol, 2002, 13(suppl 2) : S134 -S138.
  • 4Kampmann C, Baehner F, Ries M, et al. Cadiae involvement in Anderson-Fabry disease[J]. J Am Soc Nephrol,2002,13 (suppl 2) :S147 - S149.
  • 5Kolodny EH, Pastores GM. Anderson-Fabry disease: extrarenal, neurologic manifestations[J]. J Am Soc Nephrol,2002,13 (suppl 2) :S150 - S153.
  • 6MacDermot J, MacDermot KD. Neuropathie pain in Anderson-Fabry disease:pathology and therapeutic options[J].Eur J Pharmacol,2001,429:121 - 125.
  • 7Moore DF, Scott LTC, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease [ J ]. Circulation, 2001,104 : 1506 - 1512.
  • 8DeGraba T, Azhar S, Dignar-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients [J].Ann Neurol, 2000,47:229 - 233.
  • 9Ziegler R J, Yew NS, Li C, et al. Correction of enzymatic and lysosomal storage defects in Fabrv mice by aden-ovirus-mediated gene transfer[J]. Hum Gene Ther, 1999,10:1667 - 1682.
  • 10Ohshima T, Schiffmann R, Murray GJ, et al. Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice[J]. Proc Natl Acad Sci USA, 1999,96:6423 - 6427.

同被引文献45

  • 1郑晓刚,周晓军,张泰和,陆珍凤.Fabry氏病肾活检的电镜诊断[J].电子显微学报,1995,14(5):332-335. 被引量：1
  • 2张静,刘彦仿,刘健,程虹,王汉民,崔继红,任丽君.Fabry肾病临床病理观察[J].诊断病理学杂志,2005,12(4):263-266. 被引量：8
  • 3Sheu SS, Chan LP, Liao SC, et al. Fabry's disease: clinical, pathologic and biochemical manifestations in two chinese males. Zhonghua Yi Xue Za Zhi( Taipei ), 1994,54:368-372.
  • 4Linthorst GE, Vedder AC, Aerts JM, et al. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta,2005 ,353 :201-203.
  • 5Masson C, Cisse I, Simon V, et al. Fabry disease: a review. Joint Bone Spine,2004,71:381-383.
  • 6MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet,2001,38 :769-775.
  • 7Hoffmann B, Beck M, Sunder-Plassmann G, et al. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy-a retrospective analysis from the Fabry Out-come Survey. Clin J Pain,2007,23:535-542.
  • 8Mehta A. New developments in the management of Anderson-Fabry disease. QJM, 2002,95 : 647 -653.
  • 9Mac Dermot 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 :750-760.
  • 10Bishop DF, Calhoun DH, Bemstein HS, et al. Human ot-galactosidase A : nucleotide sequence of a cDNA clone encoding the mature enzyme. Proe Natl Acad Sci USA, 1986,83:4859-4863.

引证文献4

二级引证文献11

南京医科大学学报（自然科学版）
2003年 第6期

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