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线粒体神经胃肠型脑肌病1例并文献复习

Mitochondrial neurogastrointestinal encephalomyopathy:a case report and literature review
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摘要 报道1例线粒体神经胃肠型脑肌病患者临床资料,并进行文献复习。 The clinical data of a patient with mitochondrial neurogastrointestinal encephalomyopathy were reported and literature review was conducted.
作者 孙丹 王显飞 冯志松 黄旻 Sun Dan;Wang Xian-fei;Feng Zhisong;Huang Min(Department of Gastroenterology,Affiliated Hospital of North Sichuan Medical College,Sichuan Province,Nanchong 637000,China)
机构地区 川北医学院附属医院消化内科
出处 《疑难病杂志》 CAS 2023年第6期653-654,共2页 Chinese Journal of Difficult and Complicated Cases
关键词 线粒体神经胃肠型脑肌病 线粒体脑肌病 诊断 治疗 Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial encephalomyopathy Diagnosis Treatment
分类号 R685 [医药卫生—骨科学]
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二级参考文献33

  • 1呼群,王朝霞,袁云.线粒体神经胃肠脑肌病[J].中华内科杂志,2005,44(8):630-632. 被引量：7
  • 2Bedlack RS,Vu T, Hammans S, et al. MNGIE neuropathy : five ca- ses mimicking chronic inflammatory demyelinating polyneuropathy [ J]. Muscle Nerve,2004,29:364 - 368.
  • 3Celebi N, Sahin A, Canbay O,et al. Abdominal pain related to mito- chondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade [ J ]. Paediatr Anaesth, 2006,16 : 1073 - 1076.
  • 4Lara MC,Weiss B, Illa I, et al. Infusion of platelets transiently re- duces nucleoside overload in MNGIE [ J ]. Neurology, 2006,67: 1461 - 1463.
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  • 6Hirano M, Marti R, Casali C, et al. Allogeneic stem cell transplanta- tion corrects biochemical derangements in MNGIE [ J ]. Neurology, 2006,67:1458 - 1460.
  • 7Torres-Torronteras J, Gomez A, Eixarch H, et al. Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE [ J ]. Gene Ther, 2011,18 : 795 - 806.
  • 8Halter J,Schupbach WM, Casali C, et al. Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastroi- ntestinal encephalomyopathy(MNGIE) :a consensus conference pro- posal for a standardized approach [J]. Bone Marrow Transplant, 2010,46 (3) :330 - 337.
  • 9Okamura K, Santa T, Nagae K, et al. Congenital oculoskeletal myopa- thy with abnormal muscle and liver mitochondria [ J]. J Neurol Sci, 1976,27:79 -91.
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疑难病杂志
2023年 第6期

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