نتایج جستجو برای: methylenetetrahydrofolate reductase deficiency
تعداد نتایج: 180150 فیلتر نتایج به سال:
we report a case of choroidal neovascularization (cnv) secondary to methylenetetrahydrofolate reductase (mthfr) gene mutation in a 20-year-old male patient with hypopituitarism. treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted in significant improvement of the patient’s vision and the appearance of the macula. a search ...
background recurrent pregnancy loss (rpl) is a serious problem for pregnancy. there is evidence that vascular complications play a principal role in rpl. methylenetetrahydrofolate reductase (mthfr) is a key enzyme in folate metabolism. polymorphisms (c677t, a1298c) of mthfr gene are associated with decreased mthfr activity. objectives the aim of this study was to determine the association betwe...
background: the association between methylene tetrahydrofolate reductase polymorphism and coronary artery diseases risk has been both confirmed and refuted in a number of published studies. the aim of this study was to investigate whether genetic polymorphisms of mthfr (c677t, a1298c) contributed to the development of myocardial infarction (mi). materials and methods: the present case-control s...
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.
The activities of 5-methyltetrahydrofolate (5-CH3THF) related enzymes and DNA polymerase alpha were determined in bone marrow cells obtained from patients with vitamin B12 deficient megaloblastic anemia and compared with those from healthy volunteers and patients with hemolytic anemia. 5-CH3THF homocysteine methyltransferase activity was significantly lower than that in the control subjects. 5,...
objective: the methylenetetrahydrofolate reductase (mthfr) gene polymorphism c677t is suspected to be a risk factor for psychiatric disorders, but it remains inconclusive whether the mthfr polymorphism c677t is imputed to vulnerability to schizophrenia and bipolar disorder. method: we prompted impetus to appraise this polymorphism in an iranian population. therefore, 90 patients with bipolar di...
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