期刊文献+

视神经脊髓炎样起病的成人甲基丙二酸血症一例 被引量:2

Adult methylmalonic acidemia presented as neuromyelitis optica:one case report
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摘要 患者男性,26岁,因智力减退、小便失禁3个月、视力下降1个月,伴双下肢麻木、无力20d,于2014年12月8日入院。患者3个月前夜间突发反应迟钝、问话不答,伴小便失禁、头晕、恶心。当地医院头部MRI检查显示脑萎缩;脑电图呈轻度异常,
出处 《中国现代神经疾病杂志》 CAS 2015年第10期835-837,共3页 Chinese Journal of Contemporary Neurology and Neurosurgery
关键词 视神经脊髓炎 甲基丙二酸 成年人 病例报告 Neuromyelitis optica Methylmalonic acid Adult Case reports
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参考文献7

  • 1王斐,韩连书.甲基丙二酸血症诊治研究进展[J].临床儿科杂志,2008,26(8):724-727. 被引量:59
  • 2Carrillo - Carrasco N,Chandler RJ, Venditti CP. Combinedmethylmalonic acidemia and homocystinuria, cblC type: I .Clinical presentations, diagnosis and management. J InheritMetab Dis, 2012,35:91-102.
  • 3Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ,Weinshenker BG. The spectrum of neuromyelitis optica. LancetNeurol, 2007,6:805-815.
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二级参考文献18

  • 1韩连书,高晓岚,叶军,邱文娟,王瑜,顾学范.串联质谱技术在有机酸血症鉴别诊断中的应用[J].临床儿科杂志,2006,24(12):970-974. 被引量:36
  • 2张尧,宋金青,刘平,燕容,东锦华,杨艳玲,王兰凤,姜玉武,张月华,秦炯,吴希如.甲基丙二酸尿症合并同型半胱氨酸血症57例临床分析[J].中华儿科杂志,2007,45(7):513-517. 被引量:49
  • 3朱彦丽,吕凌云,杨健,李尔珍,王立文,张桂榛,许克铭,吴建新,张霆.甲基丙二酸血症患儿治疗前后的脑电图监测[J].中国实用儿科杂志,2007,22(7):520-522. 被引量:11
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  • 8Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metaholism [M]// Seriver CR, Beaudet AL,Sly WS, et al. The metabolic and moleeularBasis of inherited diseases. 8 th ed. New York:McGraw-Hill,2001:2165-2193.
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