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Hallervorden-Spartz综合征一例

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摘要 患儿男,8岁。2年前发现不自主运动增多,走路时手舞足蹈,端小时全身摇动,伴有经常跌倒,手抓东西不灵便,睡着后上述症状消失。入院前20d出现全身持续性强直性痉挛,伴有不自主摔倒,进食时不能咀嚼,既往无类似家族史,父世非近亲结婚。体检:发育正常,意识模糊,记忆力、定向力、计算力、判断力检查无法配合。
出处 《中国医药》 2015年第2期195-195,共1页 China Medicine
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参考文献3

  • 1Hayflick SJ. Unraveling the Hallervoixlen-Spatz syndrome: panlo-thenale kinase-associated neurodegeneralion is the name [ J ]. CurrOpin Pediatr,2003,15(6) :572-577.
  • 2Zhou B, Westaway SK, Levinson B, el ai. A novel pantothenate ki-nase gene (PANK2) is defective in Hallervonlen-Spatz syndrome[J].Nat Genet, 2001 ,28(4) :345-349.
  • 3张玉虎,唐北沙,窦荣花,陈兵,陈海波,郭纪锋,龙志高,夏昆,潘乾,许波,汤建光,严新翔,沈璐,江泓.Hallervorden-Spatz综合征的临床、磁共振成像特征及泛酸激酶2基因的突变检测[J].中华神经科杂志,2005,38(1):34-37. 被引量:12

二级参考文献9

  • 1Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.Nat Genet,2001,28:345- 349.
  • 2Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med,2003,348 : 33 -40.
  • 3Dooling EC, Schoene WC, Richardson EP. Hallervorden-Spatz syndrome. Arch Neurol, 1974,30:70-83.
  • 4Swainman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol, 1991,48 : 1285-1293.
  • 5Swainman KF. Hallervorden-Spatz syndrome. Pediatr Neurol,2001,25 : 102-108.
  • 6Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation ( Hallervorden-Spatz syndrome ) and pankothenate kinase-associated neurodegeneration. Mov Disord ,2004,19:36-42.
  • 7Johnson MA, Kuo YM, Westaway SK, et al. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.Ann N Y Acad Sci,2004,1012:282-298.
  • 8Yoon SJ, Koh YH, Floyd RA, et al. Copper, zinc superoxide dismutase enhances DNA damage and mutagenicity induced by cysteine/iron. Mutat Res,2000, 448:97-104.
  • 9卢文甫,王鲁宁,贾建军,汤洪川,陈彤.哈勒沃登-施帕茨病的诊断[J].中华神经科杂志,2000,33(3):165-167. 被引量:9

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