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The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
An international questionnaire survey has been conducted to define better the natural history of homocystinuria due to cystathionine beta-synthase deficiency and permit evaluation of treatment. DataExpand
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Plasma homocysteine as a risk factor for vascular disease. The European Concerted Action Project.
CONTEXT Elevated plasma homocysteine is a known risk factor for atherosclerotic vascular disease, but the strength of the relationship and the interaction of plasma homocysteine with other riskExpand
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Thermolabile methylenetetrahydrofolate reductase in coronary artery disease.
BACKGROUND Hyperhomocysteinemia, an independent and graded risk factor for coronary artery disease (CAD), may result from both environmental and hereditary factors. MethylenetetrahydrofolateExpand
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Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Mild hyperhomocysteinemia is an established risk factor for cardiovascular disease. Genetic aberrations in the cystathionine beta-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) genesExpand
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Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent
To determine the effects of daily supplementation of 0.5 mg folic acid on homocysteine and folate concentrations, we investigated 49 women with a history of unexplained recurrent miscarriages. AExpand
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Vascular Outcome in Patients With Homocystinuria due to Cystathionine &bgr;-Synthase Deficiency Treated Chronically: A Multicenter Observational Study
An inborn error of metabolism, homocystinuria due to cystathionine &bgr;-synthase deficiency, results in markedly elevated levels of circulating homocysteine. Premature vascular events are the mainExpand
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A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk
Molecular defects in genes encoding enzymes involved in homocysteine metabolism may account for mild hyperhomocysteinemia, an independent and graded risk factor for cardiovascular disease (CVD). WeExpand
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Homocysteine and risk of ischemic heart disease and stroke: a meta-analysis.
CONTEXT It has been suggested that total blood homocysteine concentrations are associated with the risk of ischemic heart disease (IHD) and stroke. OBJECTIVE To assess the relationship ofExpand
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Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.
Thermolability of 5,10-methylenetetrahydrofolate reductase (MTHFR) was examined as a possible cause of mild hyperhomocysteinemia in patients with premature vascular disease. Control subjects andExpand
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Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years.
Premenopausal women develop occlusive artery disease less frequently than postmenopausal women. In coronary heart disease, higher blood levels of homocysteine-cysteine mixed disulphide have beenExpand
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