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 …
neural tube defects (NTD) by as much as 70%, yet the protective mechanism remains …
Folate status and neural tube defects
Periconceptional folic acid supplementation prevents approximately 70% of neural tube
defects (NTDs). While most women carrying affected fetuses do not have deficient blood …
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 …
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 …
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 …
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 …
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
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 …
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 …
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
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 …
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 …
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 …
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 …
neural tube defect (NTD) by> 50%. A variant form of methylenetetrahydrofolate reductase …