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Menkes病1例报告 被引量:3

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摘要 Menkes病最初于1962年,由Menkes等报道,是由于基因缺陷而导致的体内铜代谢障碍性疾病,遗传方式为X连锁隐性遗传。为加强对本病的认识,现将本院诊治的Menkes病1例的临床资料报告如下。
出处 《临床儿科杂志》 CAS CSCD 北大核心 2009年第4期383-385,共3页 Journal of Clinical Pediatrics
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参考文献7

  • 1张宗昊.Menkes病[M]//吴希如,林庆.小儿神经系统疾病基础与临床.北京:人民卫生出版社,2000:486-487.
  • 2Boustany RM, Zucker A. Degenerative disease primarily of gray matter [M]//Swaiman KF, Ashwal S, Ferriero DM. Pediatric neurology: Principles and practice. 4th ed. Mosbyi Elsevier, 2006 : 1320-1339.
  • 3Bahi-Buisson N, Kaminska A, Nabbout R, et al. Epilepsy in Menkes disease: analysis of clinical stages [J]. Epilepsia, 2006, 47(2) :380-386.
  • 4Gasch AT, Caruso RC, Kaler SG, et al. Menkes' syndrome: ophthahnic findings [J]. Ophthalmology,2002,109 (8) : 1477 - 1483.
  • 5Gu YH, Kodama H, Sato E, et al. Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement [J]. Brain Dev, 2002,24(7) :715-718.
  • 6Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease [J]. N Engl J Med, 2008,358 (6) :605-614.
  • 7麻宏伟,陈丽英,张海娟,王阳,赵云静.Menkes病一家系二例[J].中华医学遗传学杂志,2001,18(4):258-258. 被引量:3

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同被引文献34

  • 1陈嬿,蒋雨平.铜蓝蛋白的代谢和低铜蓝蛋白血症的临床表现[J].中国临床神经科学,2006,14(1):86-89. 被引量:13
  • 2高晶,郭玉璞,高淑芳,张振馨,黄惠芬,任海涛,赵艳环.Menkes病的临床及病理[J].中国现代神经疾病杂志,2006,6(3):188-193. 被引量:10
  • 3Menkes JH,Alter M,Steigleder GK,el al.A sex linked recessive disorder with retardation of growth,peculiar hair and focal cerebral and cerebellar degeneration[J].Pediatrics,1962,29(5):764-779.
  • 4Gu YH,Kodama H,Shiga K,et al.A survey of Japanese patients with Menkes disease from 1990 to 2003:incidence and early signs before typical symptomatic onset,pointing the way to earlier diagnosis[J].Inherit Metab Dis,2005,28(4):473-478.
  • 5Bahi-Buisson N,Kaminska A,Nabbout R,el al.Epilepsy in Menkes disease:analysis of clinical stages[J].Epilepsia,2006,47(2):380-386.
  • 6Formigari A,Irato P,Santon A.Zinc,antioxidant systems and metallothionein in metal mediated-apoptosis:biochemical and cytochemical aspects[J]. Comp Biochem Physiol C Toxicol Pharmacol,2007,146(4):443-459.
  • 7Speisky H,Gomez M,Burgos-Bravo F,et al.Generation of superoxide radicals by copper-glutathione complexes:redox-consequences associated with their interaction with reduced glutathione[J].Bioorg Med Chem,2009,17(5):1803-1810.
  • 8Mφller LB,Bukrinsky JT,Mφlgaard A,et al.Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A[J].Hum mutat,2005,26(2):84-93.
  • 9Meskini RE,Crabtree KL,Cline LB,et al.ATP7A(Menkes protein)functions in axonal targeting and synaptogenesis[J].Mol Cell Neurosci,2007,34(3):409-421.
  • 10Niciu MJ,Ma XM,Meskinl RE,et al.Developmental changes in the expression of ATP7A during a critical period in postnatal neuredevelopment[J].Neuroscience,2006,139(3):947-964.

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