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Items for "methylenetetrahydrofolate reductase (MTHFR)"

Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects

Background: Alterations in global DNA methylation are implicated in various pathobiological processes...

Keywords: cytosine, global DNA methylation, isotope dilution, 5-methylcytosine, methylenetetrahydrofolate reductase (MTHFR), tandem mass spectrometry

07/2007 | Clinical Chemical Laboratory Medicine, Walter de Gruyter

Methylenetetrahydrofolate reductase gene A222V polymorphism and risk of ischemic stroke

The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene 677C?T polymorphism causes an A222V amino acid change which affects MTHFR enzyme activity and can increase homocysteine, a vascular disease risk factor...

Keywords: elderly, folate, methylenetetrahydrofolate reductase (MTHFR), mutation, Polymorphism, Stroke

12/2004 | Clinical Chemical Laboratory Medicine, Walter de Gruyter

Evaluation of a shorter methionine loading test

We validated whether a shorter methionine loading test is as accurate as the original 6-h test in identifying hyperhomocysteinemic patients and investigated determinants of fasting and post-load homocysteine concentration...

Keywords: homocysteine, methionine loading test, methylenetetrahydrofolate reductase (MTHFR), mutation

09/2004 | Clinical Chemical Laboratory Medicine, Walter de Gruyter

The molecular basis of homocysteine thiolactone-mediated vascular disease

Accumulating evidence suggests that a metabolite of homocysteine (Hcy), the thioester Hcy-thiolactone, plays an important role in atherogenesis and thrombosis...

Keywords: atherosclerosis, autoantibodies, cystathionine ?-synthase (CBS), dietary hyperhomocysteinemia, fibrinogen, genetic hyperhomocysteinemia, homocysteine thiolactone hypothesis, immune activation, methylenetetrahydrofolate reductase (MTHFR), protein N-homocysteinylation, thrombosis