نتایج جستجو برای: methylenetetrahydrofolate reductase deficiency

تعداد نتایج: 180150  

2012
Hongli Wang Dongsheng Fan Tianpei Hong

The present study enrolled 251 diabetic patients, including 101 with neuropathy and 150 without neuropathy. Of the 150 patients, 100 had no complications, such as retinopathy, nephropathy, or neuropathy. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to identify methylenetetrahydrofolate reductase gene variants. Plasma homocysteine levels were also measured...

2014
Jean-Marie Sontag Brandi Wasek Goce Taleski Josephine Smith Erland Arning Estelle Sontag Teodoro Bottiglieri

Common functional polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, a key enzyme in folate and homocysteine metabolism, influence risk for a variety of complex disorders, including developmental, vascular, and neurological diseases. MTHFR deficiency is associated with elevation of homocysteine levels and alterations in the methylation cycle. Here, using young and aged Mthfr...

2013
Joanna Hanks Iyeman Ayed Neil Kukreja Chris Rogers Jessica Harris Alina Gheorghiu Chee Ling Liu Peter Emery Maria Pufulete

Background: Decreased genomic and increased gene-specific DNA methylation predispose to colorectal cancer. Dietary folate intake and the methylenetetrahydrofolate reductase polymorphism (MTHFR 677C.T) may influence risk by modifying DNA methyl-

Journal: :European Heart Journal Supplements 2022

Abstract Beyond well-assessed risk factors, cardiovascular events could be also associated with the presence of epigenetic and genetic alterations, such as methylenetetrahydrofolate-reductase (MTHFR) C677T polymorphism. This gene variant is related to increased circulating levels homocysteine (Hcy) risk. However, heterozygous carriers have an augmented accidents independently from normal Hcy le...

2008
MW Heijstek NM Wulffraat Y Eken SMF Pluijm CMA Rademaker R de Jonge

Methods Genotypes were determined in an observational cohort of 183 JIA patients that had been systematically followed at 3 months intervals. The following SNPs were determined: methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C, methionine synthase reductase (MTRR) 66A>G, thymidylate synthase (TS) 2R/3R and Reduced Folate Carrier (RFC) 80G>A. MTX efficacy and adverse effects were c...

Journal: :Epilepsia 2015
Saadet Mercimek-Mahmutoglu Jaina Patel Dawn Cordeiro Stacy Hewson David Callen Elizabeth J Donner Cecil D Hahn Peter Kannu Jeff Kobayashi Berge A Minassian Mahendranath Moharir Komudi Siriwardena Shelly K Weiss Rosanna Weksberg O Carter Snead

OBJECTIVE Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. METHODS We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics ...

Journal: :The Journal of bone and joint surgery. British volume 1999
S Hayek G Kenet A Lubetsky N Rosenberg S Gitel S Wientroub

Heritable thrombophilic disorders have been proposed as one of the causes for Legg-Calvé-Perthes disease. A total of 62 patients diagnosed with this disease between 1988 and 1997 and 50 controls were screened for thrombophilia. The incidence and relationship of thrombophilia to the severity of the disease were evaluated. One patient and none of the controls had protein S deficiency. One of the ...

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