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Elevated midtrimester serum methylmalonic acid levels as a risk factor for neural tube defects

โœ Scribed by Adams, M. J. ;Khoury, Muin J. ;Scanlon, Kelley S. ;Stevenson, Roger E. ;Knight, George J. ;Haddow, James E. ;Sylvester, Gregg C. ;Cheek, James E. ;Henry, Judy P. ;Stabler, Sally P. ;Allen, Robert H.

Book ID
112219628
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
650 KB
Volume
51
Category
Article
ISSN
0040-3709

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5,10 Methylenetetrahydrofolate reductase
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
โœ Ou, C Y; Stevenson, R E; Brown, V K; Schwartz, C E; Allen, W P; Khoury, M J; Roz ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 19 KB ๐Ÿ‘ 2 views

Persons with a thermolabile form of the enzyme 5,lO methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C