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甲基丙二酸血症2例并文献复习

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摘要 甲基丙二酸血症(methylmalonic acidemia,MMA)是一种常见的有机酸血症,呈常染色体隐性遗传,是由于甲基丙二酰辅酶A变位酶活性降低或其辅酶钴胺素代谢缺陷所致,其中甲基钴胺素还是同型半胱氨酸合成蛋氨酸的辅酶。
出处 《滨州医学院学报》 2015年第2期145-146,共2页 Journal of Binzhou Medical University
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参考文献8

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  • 2Horster F, Hoffmann GF. Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-reeent advances and new challenges[J]. Pediatr Nephrol, 2004,19 (10) : 1071-1074.
  • 3韩连书,毋盛楠,叶军,邱文娟,张惠文,高晓岚,王瑜,李筱燕,许浩,顾学范.单纯型甲基丙二酸血症患者诊治分析[J].中华医学遗传学杂志,2013,30(5):589-593. 被引量:33
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  • 5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
  • 6王昱,陈晶,桂芹.先天性甲基丙二酸血症一例[J].中华医学遗传学杂志,2007,24(1):117-117. 被引量:4
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二级参考文献22

  • 1韩连书,高晓岚,叶军,邱文娟,顾学范.串联质谱分析干血滤纸片酰基肉碱方法的建立[J].中华检验医学杂志,2005,28(1):88-91. 被引量:31
  • 2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
  • 3王昱,陈晶,桂芹.先天性甲基丙二酸血症一例[J].中华医学遗传学杂志,2007,24(1):117-117. 被引量:4
  • 4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
  • 5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
  • 6Deodato F, Boenzi S, Santorelli FM, et al. Methylmalonic and propionic aciduria [J]. Am J Med Genet C Semin Med Genet, 2006,142(2) : 104-112.
  • 7Han LS, Ye J, Qiu W J, et al. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China:a four-year report [J]. J Inherit Metab Dis, 2007,30 (4) : 507-514.
  • 8Horster F, Hoffmann GF. Pathophysiology,diagnosis,and treatment of methylmalonic aciduria:recent advances and new challenges [J]. Pediatr Nephrol,2004,19(10) : 1071-1074.
  • 9Morel CF, Lerner-Ellis JP, Rosenblatt DS. Combined methylmalonie aeiduria and homoeystinuria (cblC) :phenotype-genotype correlations and ethnic-specific observations [J]. Mol Genet Metab,2006,88(4) :315-321.
  • 10Fenton 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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