Henk J. Blom

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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

Phyllis D Frosst, Henk J. Blom, +8 authors Ramona Rozen
Nature Genetics
1995

Hyperhomocysteinaemia has been identified as a risk factor for cerebrovascular, peripheral vascular and coronary heart disease1–4. Elevated levels of plasma homocysteine can result from genetic or… (More)

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

Nathalie M J van der Put, Fons J.M. Gabreëls, +5 authors Henk J. Blom
American journal of human genetics
1998

Recently, we showed that homozygosity for the common 677(C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for… (More)

Neural tube defects and folate: case far from closed

Henk J. Blom, Gary M Shaw, Martin den Heijer, Richard H. Finnell
Nature Reviews Neuroscience
2006

Neural tube closure takes place during early embryogenesis and requires interactions between genetic and environmental factors. Failure of neural tube closure is a common congenital malformation that… (More)

Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis

J W Muntjewerff, René S. Kahn, Henk J. Blom, Martin den Heijer
Molecular Psychiatry
2006

Elevated plasma homocysteine concentration has been suggested as a risk factor for schizophrenia, but the results of epidemiological studies have been inconsistent. The most extensively studied… (More)

Hyperhomocysteinemia as a risk factor for deep-vein thrombosis.

Martin den Heijer, Ted Koster, +5 authors Frits R Rosendaal
The New England journal of medicine
1996

BACKGROUND Previous studies have suggested that hyperhomocysteinemia may be a risk factor for venous thrombosis. To assess the risk of venous thrombosis associated with hyperhomocysteinemia, we… (More)

MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis.

Mariska Klerk, P. N. W. Verhoef, Robert Clarke, Henk J. Blom, Frans J. Kok, Evert G. Schouten
JAMA
2002

CONTEXT In observational studies, individuals with elevated levels of plasma homocysteine tend to have moderately increased risk of coronary heart disease (CHD). The MTHFR 677C-->T polymorphism is a… (More)

Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects

Henk J. Blom, Yvo Michiel Smulders
Journal of Inherited Metabolic Disease
2010

This overview addresses homocysteine and folate metabolism. Its functions and complexity are described, leading to explanations why disturbed homocysteine and folate metabolism is implicated in many… (More)

Thermolabile methylenetetrahydrofolate reductase in coronary artery disease.

Leo A. J. Kluijtmans, John J. P. Kastelein, +10 authors Henk J. Blom
Circulation
1997

BACKGROUND Hyperhomocysteinemia, an independent and graded risk factor for coronary artery disease (CAD), may result from both environmental and hereditary factors. Methylenetetrahydrofolate… (More)

Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.

Charlotte E Teunissen, Ellen Iacobaeus, +9 authors Christine D. Dijkstra
Neurology
2009

OBJECTIVE Axonal degeneration is the likely cause of disease progression in multiple sclerosis (MS). Our previous results indicated that neuron-specific N-acetylaspartate (NAA) is a candidate CSF… (More)

Folic acid, methylation and neural tube closure in humans.

Henk J. Blom
Birth defects research. Part A, Clinical and…
2009

This review provides a brief description of folate use and folic acid metabolism in relation to neural tube defect (NTD) risk. First, a meta-analysis of reduction in NTD recurrence and occurrence… (More)

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