Article
Folate pathway gene alterations in patients with neural tube defects.
American journal of medical genetics - 27 Nov 2000
De Marco P, Moroni A, Merello E, de Franchis R, Andreussi L, Finnell R H, Barber R C, Cama A, Capra V
Abstract excerpt
Periconceptional folate supplementation reduces the recurrence and occurrence risk of neural tube defects (NTD) by as much as 70%, yet the protective mechanism remains unknown. Inborn errors of folate and homocysteine metabolism may be involved in the aetiology of NTDs. Previous studies have demonstrated that both homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, and...
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