期刊文献+

Menkes病一例 被引量:2

原文传递
导出
摘要 患儿 男,10个月,因生后3个月起反复“痉挛”就诊。患儿第1胎第1产,足月顺产出生,出生体重3.0kg。生后头发稀少,扭曲,色黄,极易断裂。生后3个月开始出现强直性痉挛,进行性加重,持续数秒钟至20min不等,日发作可达10余次,不伴发热及呕吐,随病情加重,面部表情逐渐减少。曾在我院住院治疗,给补钙等治疗无效。父母体健,均为独生子女,非近亲婚配。
出处 《中华儿科杂志》 CAS CSCD 北大核心 2008年第3期239-239,共1页 Chinese Journal of Pediatrics
  • 相关文献

参考文献3

  • 1Addeth I, Omeroglu A, Kurugoglu S, et al. Lumbar and iliac artery aneurysms in Menkes' disease: endov stent treatment of the lumber artery aneurysm. Pediatr Radiol,2005 ,35 :1006-1009.
  • 2赵时敏.遗传代谢性疾病//赵时敏,魏珉.儿科疑难病例分析.合肥:安徽科学技术出版社,2001:330-333.
  • 3Gow PJ, Smallwood RA, Angus PW, et al. Diagnosis of witson's disease: an experience over three decades. Gut, 2000,46:415- 419.

同被引文献36

  • 1刘芬.Menkes综合征三例报告[J].天津医药,1984(4):237-238. 被引量:1
  • 2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
  • 3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
  • 4Menkes 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.
  • 5Gu 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.
  • 6Bahi-Buisson N,Kaminska A,Nabbout R,el al.Epilepsy in Menkes disease:analysis of clinical stages[J].Epilepsia,2006,47(2):380-386.
  • 7Formigari 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.
  • 8Speisky 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.
  • 9Mφller 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.
  • 10Meskini 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.

引证文献2

二级引证文献3

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部