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Pulmonary and Cerebral Infarcts Due to Secondary Thrombosis Risk of a Genetic Mutation: Life-threating Methylentetrahydrofolate Reductase (MTHFR) Deficiency with Early Onset


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1. Forges T, Chery C, Audonnet S, et al. Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients. Molecular Genetics and Metabolism 2010;100:143–148;10.1016/j.ymgme.2010.03.002Search in Google Scholar

2. K. Kchock, A. Omezzine, L. Rebhi, et al. Preanalytical conditions for the measurement of plasma total homocysteine: genotype C677T MTHFR dependent non-fasting variations and anticoagulant effects on stability. Immuno-analyse et biologie spécialisée 2007;22 :319–324;10.1016/j.immbio.2007.06.005Search in Google Scholar

3. Nazki FH, Sameer AS, Ganaie BA. Folate: Metabolism, genes, polymorphisms and the associated diseases. Gene. 2014;533:11–20;10.1016/j.gene.2013.09.063Search in Google Scholar

4. Simsek E, Yesilyurt A, Pinarli F, Eyerci N, Ulus AT. Combined genetic mutations have remarkable effect on deep venous thrombosis and/or pulmonary embolism occurence: Gene. 2014;536:171–176;10.1016/j.gene.2013.11.019Search in Google Scholar

5. Joachim E, Goldenberg NA, Bernard TJ, et al. The Methylentetrahydrofolate Reductase Polymorphism (MTHFR c.677C > T) and Elevated Plasma Homocysteine Levels in a U.S. Pediatric Population with Incident Thromboembolism. Thromb Res. 2013;132:170–174;10.1016/j.thromres.2013.06.005Search in Google Scholar

6. Del Balzo F, Spalice A, Perla M, Properzi E, Iannetti P. MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large italian family. Pediatr Neurol. 2009;40:63-67;10.1016/j.pediatrneurol.2008.09.023Search in Google Scholar

7. Cha SI1, Shin KM, Lee J, et al. Clinical relevance of pulmonary infarction in patients with pulmonary embolism. Thromb Res. 2012;130:e1–e5;10.1016/j.thromres.2012.03.012Search in Google Scholar

8. Li P, Qin C. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: A meta-analysis. Gene. 2014;535:359–364;10.1016/j.gene.2013.09.066Search in Google Scholar

9. Sazci A, Ergul E, Tuncer N, Akpinar G, Kara I. Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C. Brain Res Bull. 2006;71:45–50;10.1016/j.brainresbull.2006.07.014Search in Google Scholar

10. Gouveia LO, Canhão P. MTHFR and the risk for cerebral venous thrombosis- a meta-analysis. Thromb Res. 2010;125:e153–e158;10.1016/j.thromres.2009.10.019Search in Google Scholar

eISSN:
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Sprache:
Englisch
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Fachgebiete der Zeitschrift:
Medizin, Klinische Medizin, andere