以大细胞性贫血为突出表现的甲基丙二酸血症1 例

臧文涛, 盛光耀, 王璐, 唐京京, 罗静

中国当代儿科杂志 ›› 2015, Vol. 17 ›› Issue (7) : 755-756.

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中国当代儿科杂志 ›› 2015, Vol. 17 ›› Issue (7) : 755-756. DOI: 10.7499/j.issn.1008-8830.2015.07.025
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以大细胞性贫血为突出表现的甲基丙二酸血症1 例

  • 臧文涛, 盛光耀, 王璐, 唐京京, 罗静
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Methylmalonic acidemia with macrocytic anemia as a prominent symptom: a case report

  • ZANG Wen-Tao, SHENG Guang-Yao, WANG Lu, et al
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臧文涛, 盛光耀, 王璐, 唐京京, 罗静. 以大细胞性贫血为突出表现的甲基丙二酸血症1 例[J]. 中国当代儿科杂志. 2015, 17(7): 755-756 https://doi.org/10.7499/j.issn.1008-8830.2015.07.025
ZANG Wen-Tao, SHENG Guang-Yao, WANG Lu, et al. Methylmalonic acidemia with macrocytic anemia as a prominent symptom: a case report[J]. Chinese Journal of Contemporary Pediatrics. 2015, 17(7): 755-756 https://doi.org/10.7499/j.issn.1008-8830.2015.07.025

参考文献

[1] Deodato F, Boenzi S, Santorelli FM, et al. Methylmalonic and propionic aciduria[J]. Am J Med Genet C Semin Med Genet, 2006, 142C(2): 104-112.
[2] 张尧, 宋金青, 刘平, 等. 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.
[3] Morel CF, Lerner-Ellis JP, Rosenblatt DS. Combined methylmalonic aciduria and homocystinuria(cblC): Phenotypegenotype correlations and ethnic-specific observations[J]. Mol Gente Metab, 2006, 88(4): 315-321.
[4] Carrillo-Carrasco N, Chandler RJ, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type.I. Clinical presentations, diagnosis and management[J]. J Inherit Metab Dis, 2012, 35(1): 91-102.
[5] 周蔚然, 刘小荣, 周楠, 等. 以溶血尿毒综合征为主要临床 表现的甲基丙二酸血症一例[J]. 中华临床医师杂志(电子版), 2013, 7(17): 8086-8087.

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