نتایج جستجو برای: methylenetetrahydrofolate reductase nadph2

تعداد نتایج: 44962  

Journal: :AJNR. American journal of neuroradiology 1997
V Engelbrecht M Rassek J Huismann U Wendel

MR imaging showed severe atrophy and large areas without myelination in the brain of a girl with methylenetetrahydrofolate reductase deficiency. Proton MR spectroscopy revealed mild signal reduction of N-acetylaspartate. After treatment with betaine, a second MR imaging study revealed a decrease in the size of the hypomyelinated zones that was paralleled by improved clinical status and laborato...

Journal: :Acta clinica Croatica 2011
Marjan Zaletel Ales Ambrozic Natasa Gaspersic Matija Zupan Bojana Zvan

The effectiveness of homocysteine-lowering therapy on stroke prevention is still unclear. Although randomized controlled epidemiological trials have yielded mixed findings, a multicenter trial did not show any beneficial effect. Genetic studies are still lacking. Therefore, we report on a female patient with transient ischemic attacks and the thermolabile variant of methylenetetrahydrofolate re...

Journal: :European heart journal 2001
J C Chambers J S Kooner

Homocysteine is derived from the metabolism of methionine, an essential amino acid primarily found in dietary animal protein. Homocysteine concentrations are determined by genetic and nutritional factors; mutations in the genes for enzymes involved in homocysteine metabolism, such as the common 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C T mutation, and deficiencies of vitamins B6, B1...

2016
Mohammad Afaque Alam

A growing body of evidence suggests that mutations in MTHFR gene are involved in cardiovascular diseases (CVD) cardiac development, atherosclerosis, myocardial infarction, heart failure, hypertension, aneurysmsand several other diseasecancers, neurological and metabolic disorders. Genetic variations in other genes are added risk for CVDa leading cause of morbidity and mortality around the globe...

Journal: :Circulation 1997
L A Kluijtmans J J Kastelein J Lindemans G H Boers S G Heil A V Bruschke J W Jukema L P van den Heuvel F J Trijbels G J Boerma F W Verheugt F Willems H J Blom

BACKGROUND Hyperhomocysteinemia, an independent and graded risk factor for coronary artery disease (CAD), may result from both environmental and hereditary factors. Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of methylenetetrahydrofolate to methyltetrahydrofolate, the methyl donor in the remethylation of homocysteine to methionine. A 677C-->T mutation in the MTHFR gene ...

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