Article
Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor.
American journal of medical genetics - 30 Jun 1998
Molloy A M, Mills J L, Kirke P N, Ramsbottom D, McPartlin J M, Burke H, Conley M, Whitehead A S, Weir D G, Scott J M
Abstract excerpt
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 variant causes high plasma homocysteine levels and reduced red cell folate (RCF) levels, both of which have also been linked to an increased risk of NTDs. We examined the relationship between folate status and presence of the common mutation...
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