切换至 "中华医学电子期刊资源库"

中华妇幼临床医学杂志(电子版) ›› 2013, Vol. 09 ›› Issue (02) : 262 -263. doi: 10.3877/cma.j.issn.1673-5250.2013.02.037

所属专题: 经典病例 经典病例 文献

病例报告

新生儿甲基丙二酸血症1例并文献复习
李桂芳1,*(), 李建英1   
  1. 1. 061000 河北沧州,河北省沧州市人民医院颐和院区新生儿科
  • 收稿日期:2012-10-11 修回日期:2013-02-16 出版日期:2013-04-01
  • 通信作者: 李桂芳
  • Received:2012-10-11 Revised:2013-02-16 Published:2013-04-01
引用本文:

李桂芳, 李建英. 新生儿甲基丙二酸血症1例并文献复习[J]. 中华妇幼临床医学杂志(电子版), 2013, 09(02): 262-263.

[1]
Oberholzer VG, Levin B, Burgess EA, et al. Methylmalonic aciduria: An inborn error of metabolism leading to chronic metabolic acidosis[J]. Arch Dia Child, 1967, 42(3):492-504.
[2]
Hzrster F, Hoffmann GF. Pathophysiology, diagnosis, and treatment of methylmalonic aciduria: Recent advances and new challenges[J]. Pediatr Nephrol, 2004, 19(10):1071-1074.
[3]
Deodato F, Boenzi S, Santorelli FM, et al. Methylmalonic and propionic aciduria[J]. Am J Med Genet, 2006, 142(2):104-112.
[4]
Liu XM, Chen Z, Yuan L, et al. Renal damage as the first symptom in children with methylmalonic aciduria: Analysis of 9 cases[J]. Chin J Evid-Based Pediatr, 2010, 5(6):447-449.
[5]
Wang XL. Suspected viral encephalitis of late onset methylmalonic aciduria and literature analysis[J]. Nerv Dis Ment Health J, 2008, 8(6):478-479.
[6]
Li SR, Yuan XY, Zhu YL, et al. Children of methylmalonic acidemia routine brain MRI image analysis[J]. J Clin Radiol, 2006, 25(12):1143-1146.
[7]
Wang ZX, Zhang W, Yang YL, et al. Late onset methylmalonic aciduria clinical and imaging analysis of three cases[J]. Chin J Neurol, 2004, 37(4):327-328.
[8]
Wang YJ, Han YT, Zhao J, et al. Late-onset pure methylmalonic acidemia: Report of 2 cases[J]. J Appl Clin Pediatr, 2006, 21(2):124-125.
[9]
Liu XH, Fu Y, Peng DH, et al. Case report of methylmalonic acidemia and homocysteinemia with bipolar disorder and literature review[J]. Chin J Clin Neurosci, 2012, 20(1):78-84.
[10]
Sun AL, Li XL, Guo P, et al. Methylmalonic acidemia and metabolic acidosis, renal insufficiency: A case report and review of the literature[J]. Chin J Birth Health Hered, 2010, 18(6):146-147.
[11]
Cavicchi C, Donati MA, Funghini S, et al. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria[J]. Clin Genet, 2006, 69(1):72-76.
[12]
Morel CF, Watkins D, Scott P, et al. Prenatal diagnosis for methylmalonic aciduria and inborn errors of vitamin B12 metabolism and transport[J]. Molenet Metab, 2005, 86(1-2):160-171.
[13]
Yannicelli S, Acosta PB, Velazquez A, et al. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food[J]. Mol Genet Metab, 2003, 80(1-2):181-188.
[14]
Wang F, Han LS. Research progress in diagnosis and treatment of methylmalonic academia[J]. J Clin Pediatr, 2008, 26(8):724-727.
[15]
Wu XR, Ling Q, ed. Pediatric diseases of the nervous system: Basic and clinics. 2nd ed[M]. Beijing: People's Medical Publishing House, 2009, 631-633.
[16]
Hou XL, Qian N, Yang YL, et al. Methylmalonic acidemia research progress[J]. Chin J Pediatr, 2005, 7(2):183-186.
[17]
Horster F, Baumgartner MS, Viardot C, et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, Cb1A, Cb1B)[J]. Pediatr Res, 2007, 62(2):225-230.
No related articles found!
阅读次数
全文


摘要