期刊文献+

疑难病例析评 第296例身材矮小一基底节钙化一乳酸酸中毒 被引量:1

原文传递
导出
摘要 患儿女,12岁,因“身高增长缓慢7年,肢体抽搐半个月”于2012年10月13日到北京阱和医院内分泌科就诊。
出处 《中华医学杂志》 CAS CSCD 北大核心 2013年第30期2397-2399,共3页 National Medical Journal of China
  • 相关文献

参考文献7

  • 1Santa KM. Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes ( MELAS) syndrome. Pharmacotherapy, 20 10 ,30: 1179 -1196.
  • 2Sue CM, Crimmins DS, Soo YS, et al. Neuroradiological features of six kindreds with MELAS tRNA( Leu) A2343G point mutation: implications for pathogenesis.J Neurol Neurosurg Psychiatry, 1995,65: 233-240.
  • 3Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci,200S,1142: 133-15S.
  • 4赵玉英,焉传祝,刘淑萍,吴金玲,李伟,任守臣,李大年.线粒体脑肌病伴高乳酸血症和卒中样发作31例临床、神经影像及肌肉病理分析[J].中华神经科杂志,2007,40(11):723-727. 被引量:22
  • 5Matsuzaki M, Izumi T, Shishikura K, et al. Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Neuropediatrics ,2002, 33: 271-273.
  • 6Yatsuga S, Pova1ko N, NishiokaJ, et al. MELAS: a nationwide prospective cohort study of 96 patients inJapan. Biochim Biophys Acta, 2012, lS20: 619-624.
  • 7Craven L, ElsonJL, Irving L, et al. Mitochondrial DNA disease: new options for prevention. Hum Mol Genet, 2011, 20: R16S?R174.

二级参考文献16

  • 1吴晔,赵晖,姜玉武,包新华,张月华,秦炯,戚豫,袁云,吴希如.儿童MELAS综合征临床及分子遗传学特点分析[J].中国实用儿科杂志,2004,19(7):403-405. 被引量:23
  • 2焉传祝,李大年.线粒体病诊断中的若干问题[J].中华神经科杂志,2005,38(8):533-534. 被引量:32
  • 3Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes : a distinctive clinical syndrome. Ann Neurol, 1984, 16 : 481-488.
  • 4Sparaco M, Simonati A, Cavallaro T, et al. MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol(Berl) , 2003,106 : 202-212.
  • 5Thajeb P, Dai D, Chiang MF, et al. Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA. Taiwan J Obstet Gynecol, 2006, 45: 201- 207.
  • 6Haas R, Dietrich R. Neuroimaging of mitochondrial disorders. Mitochondrion, 2004, 4 : 471-490.
  • 7Sakamoto S, Nakahara T, Hamasaki O, et al. A case of MELAS showing both cytotoxic and vasogenic edema on serial diffusion-weighted imaging. Euro J Radiol Extra,2003,45:57-63.
  • 8Ohshita T, Oka M, Imon Y, et al. Serial diffusion-weighted imaging in MELAS. Neuroradiology, 2000, 42:651-656.
  • 9Iizuka T, Sakai F, Suzuki N, et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology, 2002, 59 : 816-824.
  • 10Iizuka T, Sakai F. Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res, 2005, 2: 29-45.

共引文献21

同被引文献1

引证文献1

二级引证文献1

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