نتایج جستجو برای: methylenetetrahydrofolate reductase deficiency

تعداد نتایج: 180150  

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :journal of research in medical sciences 0
asghar ebadifar nazila ameli hamid reza khorramkhorshid koorosh kamali mehdi salehizeinabadi

background: we studied the role of maternal folic acid supplementation in modifying the effects of  methylenetetrahydrofolate reductase (mthfr c677t and a1298c) gene polymorphisms in iranian children with oral clefts. materials and methods: forty?seven newborn infants with orofacial cleft and their mothers were selected randomly. mothers were matched regarding dietary folate intake.the genotypi...

2009
G. LOWE

The homogenate was subjected to centrifugation at 15 OOOg,, for IOmin and the residue was then washed with buffer A and re-centrifuged. The combined supernatant fractions were centrifuged at 23000g,,. for 60min and then stirred for 20min with DEAE-cellulose ( IOOml settled volume) that had been equilibrated in buffer A. The slurry was then poured into a column (lOx4cm) and washed with buffer A ...

Journal: :Journal of Clinical Laboratory Analysis 2015

2015
Wen-Xing Li Shao-Xing Dai Jun-Juan Zheng Jia-Qian Liu Jing-Fei Huang

Folate deficiency is strongly associated with cardiovascular disease. We aimed to explore the joint effect of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, and methionine synthase reductase (MTRR) A66G polymorphisms on folate deficiency in a Chinese hypertensive population. A total of 480 subjects aged 28-75 were enrolled in this study from ...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1986
P T Clayton I Smith B Harding K Hyland J V Leonard R J Leeming

A 2-year-old girl with 5,10-methylenetetrahydrofolate reductase deficiency developed subacute combined degeneration of the cord and a leuco-encephalopathy which was confirmed at necropsy. Total folate concentrations in serum, red cells and CSF were markedly reduced whereas vitamin B12 concentrations were normal. In addition the patient had Parkinsonism and reduced concentrations of homovanillic...

Journal: :Antioxidants & redox signaling 2007
C Lee Elmore Rowena G Matthews

Mouse models that perturb homocysteine metabolism, including genetic mouse models that result in deficiencies of methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and cystathionine beta-synthase, and a pharmaceutically induced mouse model with a transient deficiency in betainehomocysteine methyl transferase, have now been characterized and can be compared....

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