Folate pathway gene alterations in patients with neural tube defects

P De Marco, A Moroni, E Merello… - American journal of …, 2000 - Wiley Online Library
Periconceptional folate supplementation reduces the recurrence and occurrence risk of
neural tube defects (NTD) by as much as 70%, yet the protective mechanism remains …

Folate status and neural tube defects

AM Molloy, JL Mills, PN Kirke, DG Weir, JM Scott - Biofactors, 1999 - Wiley Online Library
Periconceptional folic acid supplementation prevents approximately 70% of neural tube
defects (NTDs). While most women carrying affected fetuses do not have deficient blood …

Molecular genetic analysis of human folate receptors in neural tube defects

SG Heil, NMJ van der Put, FJM Trijbels… - European Journal of …, 1999 - nature.com
Neural tube defects (NTDs) are the most common congenital malformations and are
considered to have a multifactorial origin, having both genetic and environmental …

[PDF][PDF] Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

K Doudney, J Grinham, J Whittaker… - American Journal of …, 2009 - theshinelibrary.org
Neural tube defects (NTDs) are among the commonest human birth defects, affecting around
1 per 1,000 births [Copp et al., 2003]. A genetic basis for NTDs is implicated based on the …

Low blood folates in NTD pregnancies are only partly explained by thermolabile 5, 10‐methylenetetrahydrofolate reductase: low folate status alone may be the critical …

AM Molloy, JL Mills, PN Kirke… - American journal of …, 1998 - Wiley Online Library
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 …

Genetic variation in genes of folate metabolism and neural-tube defect risk

IJM van der Linden, LA Afman, SG Heil… - Proceedings of the …, 2006 - cambridge.org
Neural-tube defects (NTD) are common congenital malformations that can lead to severe
disability or even death. Periconceptional supplementation with the B-vitamin folic acid has …

Lack of association between mutations in the folate receptor‐α gene and spina bifida

RC Barber, GM Shaw, EJ Lammer… - American journal of …, 1998 - Wiley Online Library
Defects of neural tube closure are among the most common of all human malformations.
Epidemiological and genetic studies indicate that most of these defects are multifactorial in …

The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects

AM Molloy, LC Brody, JL Mills… - … Research Part A …, 2009 - Wiley Online Library
In this paper, we trace the history of current research into the genetic and biochemical
mechanisms that underlie folate‐preventable neural tube defects (NTDs). The inspired …

Neural tube defects and a disturbed folate dependent homocysteine metabolism

NMJ van der Put, HJ Blom - European Journal of Obstetrics & Gynecology …, 2000 - Elsevier
Folate administration substantially reduces the risk on neural tube defects (NTD). The
interest for a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the …

[PDF][PDF] A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate …

LC Brody, M Conley, C Cox, PN Kirke… - The American Journal of …, 2002 - cell.com
Women who take folic acid periconceptionally reduce their risk of having a child with a
neural tube defect (NTD) by> 50%. A variant form of methylenetetrahydrofolate reductase …