Browsing by Author "MCPARTLIN, JOSEPH"
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A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations
MCPARTLIN, JOSEPH; SCOTT, JOHN MARTIN (Springer, 2005)Substantial evidence suggests that a low folate/high homocysteine phenotype is pathogenic. We analyzed the impact of the thymidylate synthase (TYMS) 3UTR ins/del polymorphism on folate and homocysteine levels and assessed ... -
Evidence of unmetabolised folic acid in cord blood of newborn and serum of 4-day-old infants
MCPARTLIN, JOSEPH; SCOTT, JOHN MARTIN; WEIR, DONALD (Cambridge University Press, 2007)Oral folic acid above certain threshold doses results in unmetabolised folic acid in serum. This raises a number of public health safety issues, principally the potential to mask pernicious anaemia; more recently the ... -
Facts and recommendations about total homocysteine determinations: an expert opinion
MCPARTLIN, JOSEPH; SCOTT, JOHN MARTIN (American Association for Clinical Chemistry, 2004)Background: Measurement of plasma total homocysteine has become common as new methods have been introduced. A wide range of disorders are associated with increased concentrations of total homocysteine. The purpose of this ... -
Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults
MCPARTLIN, JOSEPH; SCOTT, JOHN MARTIN (The American Society of Hematology, 2003)A modestly elevated total plasma homocysteine concentration (tHcy) is generally accepted as an independent and graded risk factor for various pathologies, including vascular diseases, neural tube defects, Alzheimer disease, ... -
Impaired functioning of thermolabile methylenetetrahydrofolate reductase is dependent on riboflavin status: implications for riboflavin requirements
MCPARTLIN, JOSEPH; SCOTT, JOHN MARTIN (American Society for Clinical Nutrition, 2002)Background: Methylenetetrahydrofolate reductase (MTHFR; EC 1.7.99.5) supplies the folate needed for the metabolism of homocysteine. A reduction in MTHFR activity, as occurs in the homozygous state for the 677CT (so-called ... -
Postprandial serum folic acid response to multiple doses of folic acid in fortified bread
MCPARTLIN, JOSEPH (Cambridge University Press, 2006)The benefit of the introduction of mandatory folic acid fortification of all flour products in the USA in 1998 has been amply demonstrated in a reduction of neural tube defect births. Doubt has been cast on the actual level ... -
The pregnancy-related decrease in fasting plasma homocysteine is not explained by folic acid supplementation, hemodilution, or a decrease in albumin in a longitudinal study
MCPARTLIN, JOSEPH; SCOTT, JOHN MARTIN (American Society for Clinical Nutrition, 2002)Background: Fasting plasma total homocysteine (tHcy) decreases during pregnancy. Previous reports suggested that this is due to folic acid supplementation, hemodilution, or a decrease in albumin. However, these hypotheses ... -
The prevalence of alpha-1 antitrypsin deficiency in Ireland
KELLEHER, DERMOT; MCPARTLIN, JOSEPH (2011)Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence ... -
The rate of intestinal absorption of natural food folates is not related to the extent of folate conjugation
MCPARTLIN, JOSEPH (American Society for Nutrition, 2006)Background: Evidence is conflicting as to whether the bioavailability of food folates is influenced by the extent of their conjugation. Objective: The objective was to compare the bioavailability of 3 representative ... -
Screening for vitamin B-12 and folate deficiency in older persons
MCPARTLIN, JOSEPH; SCOTT, JOHN MARTIN (American Society for Clinical Nutrition, 2003)Background: Vitamin B-12 deficiency is usually accompanied by elevated concentrations of serum total homocysteine (tHcy) and methylmalonic acid (MMA). Folate deficiency also results in elevated tHcy. Measurement of these ... -
The short-term bioavailabilities of [6S]-5-methyltetrahydrofolate and folic acid are equivalent in men.
MCPARTLIN, JOSEPH; MOLLOY, ANNE MARIE; SCOTT, JOHN MARTIN (The American Society for Nutritional Sciences, 2004)The natural folate derivative, 5-methyltetrahydrofolate ([6S]-5-MTHF), could be an option for supplementation and fortification but its bioavailability remains unclear. This study compared the bioavailability of [6S]-5-MTHF ...