丙酸血症3例报告及文献复习

张培元, 张玉琴, 于晓莉

中国当代儿科杂志 ›› 2010, Vol. 12 ›› Issue (04) : 301-302.

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PDF(968 KB)
中国当代儿科杂志 ›› 2010, Vol. 12 ›› Issue (04) : 301-302.
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丙酸血症3例报告及文献复习

  • 张培元,张玉琴,于晓莉
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Propionic academia: report of three cases and literature review

  • ZHANG Pei-Yuan, ZHANG Yu-Qin, YU Xiao-Li
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张培元, 张玉琴, 于晓莉. 丙酸血症3例报告及文献复习[J]. 中国当代儿科杂志. 2010, 12(04): 301-302
ZHANG Pei-Yuan, ZHANG Yu-Qin, YU Xiao-Li. Propionic academia: report of three cases and literature review[J]. Chinese Journal of Contemporary Pediatrics. 2010, 12(04): 301-302
中图分类号: R72   

参考文献

[1]Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, et al. High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1 540 insCCC, in the gene for the b-subunit of propiony-CoA carboxylase[J].Am J Hum Genet, 2000, 67(1):203-206.
[2]Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N .Metabolic changes associated with hyperammonemia in patients with propionic acidemia[J].Mol Genet Metab, 2006, 88(2):123-130.
[3]Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D.Prolonged QT-c intervals and decreased left ventricular contractility in patients with propionic acidemia[J].J Pediatr, 2007, 150(2):192-197.
[4]Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W.Propionic Acidemia Revisited:A Workshop Report[J].Clinical Pediatrics, 2004, 43(9):837-843.
[5]Pérez-Cerdá C, Pérez B, Merinero B, Desviat LR, Rodríguez-Pombo P, Ugarte M.Prenatal diagnosis of propionic acidemia[J].Prenat Diagn, 2004, 24(5):962-964.
[6]Thomas M, Michael L, Ertan M.Odd-numbered long-chain fatty acids in erythrocyte phospholipids as long-term follow-up parameter in propionic acidemia[J].Clin Chem Lab Med, 2004, 42(6):1005-1008.


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