Abstract The common 677C--> T mutation (+) in the 5, 10-methylenetetrahydrofolate
reductase gene, resulting in decreased activity of the enzyme, has been associated with …

Abstract Thermolabile 5, 10‐methylenetetrahydrofolate reductase (MTHFR) is the first folate‐
related variant to be associated with an increased risk of neural tube defects (NTDs). The …

Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR)
gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians …

Neural tube defects (NTDs) are multifactorial in their etiology, having both genetic and
environmental factors contributing to their development. Recent evidence demonstrates that …

One-carbon metabolism is under the influence of folate, vitamin B12 and genetic
polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C→ T and 1298 A→ …

This study presents race/ethnicity-specific prevalence estimates of neural tube defects
(NTDs) in California using 5 years of population-based data. NTD prevalence estimates …

Transport of folates in mammalian cells occurs by a carrier-mediated mechanism. The
human folate carrier (RFC-1) gene has been isolated and characterized. Within this gene, a …

Epidemiological studies have evaluated the association between maternal
methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase …

Neural tube defects (NTDs) are common birth defects and contribute to life-long disabilities,
high medical care costs, and perinatal and child mortality. This review is a primer on …

The association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered
folate metabolism in both mother and affected offspring provide a unique opportunity for …