نتایج جستجو برای: methylenetetrahydrofolate reductase deficiency
تعداد نتایج: 180150 فیلتر نتایج به سال:
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disease included in the group of homocysteine remethylation disorders. The MTHFR catalyzes the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Besides the well-known association of thrombophilic defects with MTHFR variants and elevated homocysteine, few patients with MTHFR...
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...
background and aims. the aim of the present study is to determine the incidence of mthfr c677 t and a1298c mutations in iranian patients with cleft lip and/or cleft palate. materials and methods. we screened 61 iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of mthfr gene associated with cleft lip and/or palate: a1298c and c677t, using polymerase chain react...
PURPOSE Data are conflicting concerning the risk for ischemic stroke associated with a common polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase C677T, which predisposes carriers to hyperhomocysteinemia. A meta-analysis study suggested that the 5,10-methylenetetrahydrofolate reductase 677TT genotype might have a small influence in determining susceptibility to ischemic s...
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