The Korean journal of internal medicine

The Korean Association of Internal Medicine (대한내과학회)
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Pulmonary thromboembolism due to severe hyperhomocysteinemia associated with a methyltetrahydrofolate reductase mutation

  • Cho, Kyung Hoon (Heart Research Center, Chonnam National University Hospital) ;
  • Jeong, Myung Ho (Heart Research Center, Chonnam National University Hospital) ;
  • Sim, Doo Sun (Heart Research Center, Chonnam National University Hospital) ;
  • Hong, Young Joon (Heart Research Center, Chonnam National University Hospital) ;
  • Kim, Ju Han (Heart Research Center, Chonnam National University Hospital) ;
  • Ahn, Youngkeun (Heart Research Center, Chonnam National University Hospital) ;
  • Kang, Jung Chaee (Heart Research Center, Chonnam National University Hospital)
  • Published : 2013.01.01
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Abstract

Keywords

References

  1. den Heijer M, Koster T, Blom HJ, et al. Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med 1996;334:759-762. https://doi.org/10.1056/NEJM199603213341203
  2. Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studies. J Thromb Haemost 2005;3:292-299. https://doi.org/10.1111/j.1538-7836.2005.01141.x
  3. Kang SS, Wong PW, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991;48:536-545.
  4. Moon KW, Chung WS, Youn HJ, et al. The frequency distribution of methylenetetrahydrofolate reductase (MTHFR) polymorphism and association between the genotypes and total homocysteine level in patients with coronary artery disease. Korean Circ J 1999;29:781-787. https://doi.org/10.4070/kcj.1999.29.8.781
  5. Yap S, Boers GH, Wilcken B, et al. Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol 2001;21:2080-2085. https://doi.org/10.1161/hq1201.100225

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  3. Association of folate metabolism gene polymorphisms and haplotype combination with pulmonary embolism risk in Chinese Han population vol.28, pp.5, 2013, https://doi.org/10.1007/s00335-017-9692-9