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List of works by Henk J Blom

5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine

scientific article published in April 2003

5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation

scientific article published in June 2004

A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels

scientific article

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

scientific article

A common 844INS68 insertion variant in the cystathionine beta-synthase gene

scientific article published on 01 October 1997

A common mutation in the 5,10-methylenetetrahydrofolate reductase gene as a new risk factor for placental vasculopathy

scientific article

A genome-wide linkage scan for homocysteine levels suggests three regions of interest

scientific article published in June 2006

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts

scientific article published on 03 November 2012

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

scientific article

A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk

scientific article published in September 2001

A simple high-throughput method for the determination of plasma methylmalonic acid by liquid chromatography-tandem mass spectrometry

scientific article published on 01 January 2007

A visual analog scale can assess the effect of surgical treatment in children with chronic otitis media with effusion

scientific article published on 04 February 2008

ACE inhibitorenalapril diminishes albuminuria in patients with cystinosis

scientific article published in December 2003

Aberrant folate status in schizophrenic patients: what is the evidence?

scientific article

Acidic citrate stabilizes blood samples for assay of total homocysteine

scientific article published on 01 February 1998

Activation of genes inducing cell-cycle arrest and of increased DNA repair in the hearts of rats with early streptozotocin-induced diabetes mellitus.

scientific article published on 26 January 2006

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

scientific article

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

scientific article published on 7 December 2015

Alcohol consumption and plasma homocysteine: what's brewing?

scientific article published in June 2001

Alleviation of intrasteric inhibition by the pathogenic activation domain mutation, D444N, in human cystathionine beta-synthase

scientific article published on October 2002

Altered folate and vitamin B12 metabolism in families with spina bifida offspring

scientific article published on 01 August 1997

Altered status of glutathione and its metabolites in cystinotic cells

scientific article

Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency

scientific article published on 01 January 1991

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

scientific article

Analysis of the Qatari R336C cystathionine β-synthase protein in mice

scientific article published on 10 July 2019

Arterial stiffness is not associated with bone parameters in an elderly hyperhomocysteinemic population.

scientific article published on 25 March 2015

Association between B vitamin intake and plasma homocysteine concentration in the general Dutch population aged 20-65 y

scientific article published on 01 June 2001

Association between global leukocyte DNA methylation, renal function, carotid intima-media thickness and plasma homocysteine in patients with stage 2-4 chronic kidney disease

scientific article

Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study

scientific article published on 21 June 2006

Associations of common polymorphisms in the thymidylate synthase, reduced folate carrier and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase genes with folate and homocysteine levels and venous throm

scientific article published in January 2007

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency

scientific article published on 24 March 2012

Automated extraction and amplification of DNA from whole blood using a robotic workstation and an integrated thermocycler

scientific article published in October 2000

B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness

article

Betaine and folate status as cooperative determinants of plasma homocysteine in humans

scientific article

Betaine-homocysteine methyltransferase (BHMT): genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans

scientific article published on 01 November 2000

Bioavailability of polyglutamyl folic acid relative to that of monoglutamyl folic acid in subjects with different genotypes of the glutamate carboxypeptidase II gene

scientific article published on 01 September 2004

Biological cardiovascular risk factors and plasma homocysteine levels in the general Dutch population

scientific article

Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency

scientific article

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

scientific article

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

scientific article published on 6 May 2014

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

scientific article

Can we exclude the TXNIP gene as a candidate gene for familial combined hyperlipidemia?

scientific article

Catechol-O-methyltransferase genotype is associated with plasma total homocysteine levels and may increase venous thrombosis risk

scientific article published in December 2007

Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells.

scientific article published on 26 May 2011

Cerebrospinal fluid homocysteine and the cobalamin status of the brain

scientific article published in January 1993

Changes in markers of cobalamin status after cessation of oral B-vitamin supplements in elderly people with mild cobalamin deficiency

scientific article published on 04 July 2007

Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system h.

scientific article published on July 1990

Choline and risk of neural tube defects in a folate-fortified population.

scientific article published in September 2009

Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency

scientific article published on 24 September 2010

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

scientific article published on 30 March 2020

Clinical significance of low cobalamin levels in older hospital patients

scientific article published on 01 August 2000

Cobalamin supplementation improves cognitive and cerebral function in older, cobalamin-deficient persons

scientific article published in December 2001

Cobalamin-binding proteins in normal and cobalamin-deficient older subjects

scientific article published on 01 January 2003

Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis

scientific article

Combination of serum markers related to several mechanisms in Alzheimer's disease

scientific article published in November 2003

Combined vitamin B6 plus folic acid therapy in young patients with arteriosclerosis and hyperhomocysteinemia

scientific article published in December 1994

Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects

scientific article published in January 2008

Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease

scientific article

Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy

scientific article

Congenital heart defects and maternal derangement of homocysteine metabolism

scientific article

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

scientific article published on 26 September 2016

Consequences of homocysteine export and oxidation in the vascular system

scientific article

Coronary endothelial function in hyperhomocysteinemia: improvement after treatment with folic acid and cobalamin in patients with coronary artery disease

scientific article published in August 2002

Coronary heart disease mortality, plasma homocysteine, and B-vitamins: a prospective study

scientific article published in February 2003

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

scientific article published on 22 June 2017

Correction: Protein Arginine Methylation Is More Prone to Inhibition by S-Adenosylhomocysteine than DNA Methylation in Vascular Endothelial Cells.

scientific article published on 4 October 2013

Cystathionine beta-synthase mutations in homocystinuria

scientific article (publication date: 1999)

Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study

scientific article published in January 2003

Cystathionine β-synthase deficiency in the E-HOD registry-Part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

scientific article published on 09 December 2020

Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia

scientific article published in June 1989

Cystine dimethylester model of cystinosis: still reliable?

scientific article published on 01 August 2007

Cytochrome P450-2C11 mRNA is not expressed in endothelial cells dissected from rat renal arterioles.

scientific article published on 30 December 2004

Cytokines levels in late-diagnosed Classical Homocystinuria patients

scientific article published on 28 September 2018

Cytosine DNA methylation is found in Drosophila melanogaster but absent in Saccharomyces cerevisiae, Schizosaccharomyces pombe, and other yeast species

scientific article published on 25 March 2014

DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients

scientific article published on 02 March 2007

Decrease in S-adenosylmethionine synthesis by 6-mercaptopurine and methylmercaptopurine ribonucleoside in Molt F4 human malignant lymphoblasts

scientific article published on November 1994

Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts

scientific article

Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring

scientific article published on 01 November 1996

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

scientific article published on July 1996

Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts

scientific article published on June 1990

Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.

scientific article published in July 1998

Determinants of changes in plasma homocysteine in hyperthyroidism and hypothyroidism

scientific article

Determinants of plasma homocysteine

scientific article published on 01 February 1998

Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid.

scientific article published on 24 March 2012

Development of methionine synthase, cystathionine-beta-synthase and S-adenosyl-homocysteine hydrolase during gestation in rats

scientific article published in March 1995

Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aorta

scientific article published on 18 September 2006

Dietary methionine does not reduce penetrance in curly tail mice but causes a phenotype-specific decrease in embryonic growth

scientific article published on 01 November 1995

Differences between premenopausal women and young men in the transamination pathway of methionine catabolism, and the protection against vascular disease

scientific article published in December 1988

Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease

scientific article

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

scientific article published on March 2007

Does global hypomethylation contribute to susceptibility to neural tube defects?

scientific article published on 7 April 2010

Early molecular events in the development of the diabetic cardiomyopathy

scientific article published on 01 January 2002

Effect of BTD gene variants on in vitro biotinidase activity

scientific article published on 17 July 2019

Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions

scientific article published on 01 April 2016

Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis

scientific article published in November 2004

Effect of homocysteine reduction by B-vitamin supplementation on markers of clotting activation.

scientific article published in August 2002

Effect of oral vitamin B-12 with or without folic acid on cognitive function in older people with mild vitamin B-12 deficiency: a randomized, placebo-controlled trial

scientific article published in August 2006

Effect of supplementation with cobalamin carried either by a milk product or a capsule in mildly cobalamin-deficient elderly Dutch persons

scientific article published on 01 September 2005

Effect of the methylenetetrahydrofolate reductase 677C-->T mutation on the relations among folate intake and plasma folate and homocysteine concentrations in a general population sample

scientific article published on 01 March 2003

Effect of various regimens of vitamin B6 and folic acid on mild hyperhomocysteinaemia in vascular patients

scientific article published on 01 January 1994

Effect of vitamin B12 and folic acid supplementation on biomarkers of endothelial function and inflammation among elderly individuals with hyperhomocysteinemia

scientific article published on 15 January 2016

Effects of 2-year vitamin B12 and folic acid supplementation in hyperhomocysteinemic elderly on arterial stiffness and cardiovascular outcomes within the B-PROOF trial

scientific article published on September 2015

Effects of folic acid supplementation on overall and site-specific cancer incidence during the randomised trials: meta-analyses of data on 50,000 individuals

scientific article

Effects on transmethylation by high-dose 6-mercaptopurine and methotrexate infusions during consolidation treatment of acute lymphoblastic leukemia

scientific article published on 01 May 1996

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.

scientific article

Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells

scientific article

Elevated plasma levels of homocysteine in Parkinson's disease

scientific article published on 01 November 1998

Endothelium-derived hyperpolarizing factor-mediated renal vasodilatory response is impaired during acute and chronic hyperhomocysteinemia.

scientific article published on 26 April 2004

Enhanced cellular adenosine uptake limits adenosine receptor stimulation in patients with hyperhomocysteinemia

scientific article published on 11 November 2004

Evidence for McKusick's hypothesis of deficient collagen cross-linking in patients with homocystinuria.

scientific article

Familial cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1

scientific article published on 01 October 1993

Fatal haemorrhagic infarct in an infant with homocystinuria

scientific article published in February 1999

Folate status, homocysteine metabolism, and methylene tetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects.

scientific article

Folate, homocysteine and neural tube defects: an overview

scientific article

Folate, homocysteine levels, methylenetetrahydrofolate reductase (MTHFR) 677C --> T variant, and the risk of myocardial infarction in young women: effect of female hormones on homocysteine levels

scientific article

Folic acid effects on s-adenosylmethionine, s-adenosylhomocysteine, and DNA methylation in patients with intermediate hyperhomocysteinemia

scientific article published on 01 February 2011

Folic acid enlarges the armamentarium for the treatment of coronary vasospasm

scientific article published on 01 July 2013

Folic acid supplementation does not reduce intracellular homocysteine, and may disturb intracellular one-carbon metabolism

scientific article published on 01 August 2013

Folic acid, methylation and neural tube closure in humans.

scientific article published on April 2009

Foreword to special issue on homocysteine disorders

scientific article published on February 2011

From gene to disease: cystinosis

scientific article published in March 2004

Gene-environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function.

scientific article published on 26 August 2008

Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects

scientific article published in March 2003

Gene-specific monitoring of T7-based RNA amplification by real-time quantitative PCR.

scientific article published in September 2003

Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase

scientific article

Genetic determinants of plasma total homocysteine.

scientific article

Genetic risk factor for unexplained recurrent early pregnancy loss

scientific article published on 01 September 1997

Genetics of hyperhomocysteinaemia in cardiovascular disease

scientific article

Global DNA methylation: comparison of enzymatic- and non-enzymatic-based methods

scientific article published on 28 October 2010

Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia

scientific article published on 22 May 2013

Glutathione homeostasis is disturbed in CD4-positive lymphocytes of HIV-seropositive individuals

scientific article published on 01 March 1998

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

scientific article

Growth promotion by homocysteine but not by homocysteic acid: a role for excessive growth in homocystinuria or proliferation in hyperhomocysteinemia?

scientific article published in July 1998

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

scientific article published on 24 October 2016

High homocysteine induces betaine depletion

scientific article

High-resolution 1H NMR spectroscopic investigation of a chick embryo model of neural tube development

scientific article

Homocysteine and cognitive function in institutionalised elderly A cross-sectional analysis.

scientific article published on 4 August 2005

Homocysteine and coronary heart disease: the importance of a distinction between low and high risk subjects

scientific article published in December 2002

Homocysteine and familial longevity: the Leiden Longevity Study

scientific article

Homocysteine and folate levels as risk factors for recurrent early pregnancy loss

scientific article

Homocysteine and folate status in methotrexate-treated patients with rheumatoid arthritis

scientific article published in June 2002

Homocysteine and its disulfide derivatives: a suggested consensus terminology

scientific article

Homocysteine and the risk of nursing home admission and mortality in older persons.

scientific article published on 9 November 2011

Homocysteine determinants and the evidence to what extent homocysteine determines the risk of coronary heart disease.

scientific article

Homocysteine interference in neurulation: a chick embryo model

scientific article published in June 2003

Homocysteine level is associated with aortic stiffness in elderly

scientific article published on 01 May 2013

Homocysteine levels and treatment effect in the PROspective Study of Pravastatin in the Elderly at Risk

scientific article

Homocysteine levels are inversely associated with capillary density in men, not in premenopausal women

scientific article published on 01 January 2014

Homocysteine levels--before and after methionine loading--in 51 Dutch families

scientific article

Homocysteine levels: measure or not?

scientific article published in January 2013

Homocysteine lowering by B vitamins and the secondary prevention of deep vein thrombosis and pulmonary embolism: A randomized, placebo-controlled, double-blind trial

scholarly article by Martin den Heijer et al published 1 January 2007 in Blood

Homocysteine metabolism and B-vitamins in schizophrenic patients: low plasma folate as a possible independent risk factor for schizophrenia

scientific article published in November 2003

Homocysteine metabolism in endothelial cells of a patient homozygous for cystathionine beta-synthase (CS) deficiency

scientific article published on 01 August 1997

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

scientific article

Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX2 and peri-nuclear NOX4 activity

scientific article

Homocysteine-lowering effect of 500 microg folic acid every other day versus 250 microg/day

scientific article

Homocysteinemia After Hypertensive Pregnancy Disorders at Term

scientific article published on June 2015

Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis

scientific article published on 01 March 1998

Hormone replacement therapy may reduce high serum homocysteine in postmenopausal women

scientific article published in November 1994

Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency

scientific article published on 01 December 2000

Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive disease

scientific article published in March 1995

Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae

scientific article published in May 1992

Hyperhomocysteinaemia in Parkinson's disease

scientific article published on 01 December 1998

Hyperhomocysteinemia and other thrombotic risk factors in women with placental vasculopathy

scientific article

Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis

scientific article published in December 2000

Hyperhomocysteinemia and venous thrombosis: a meta-analysis.

scientific article published in December 1998

Hyperhomocysteinemia as a risk factor for deep-vein thrombosis

scientific article published in March 1996

Hyperhomocysteinemia as risk factor for ischemic and hemorrhagic stroke in newborn infants

scientific article published in September 2002

Hyperhomocysteinemia in Alzheimer's disease: the hen and the egg?

scientific article

Hyperhomocysteinemia, MTHFR, and risk of vascular disease

scientific article published on 01 April 2000

Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: a Dutch population based case-control study

scientific article

Hyperhomocysteinemia: a risk factor for ischemic stroke in children

scientific article published in April 1999

Hyperhomocysteinemia: a risk factor for placental abruption or infarction

scientific article published in May 1996

Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss

scientific article published on 01 November 1993

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

scientific article

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency

scientific article published in May 1998

Improved cardiovascular risk profile and renal function in renal transplant patients after randomized conversion from cyclosporine to tacrolimus

scientific article

Improved insulin sensitivity and metabolic control in type 2 diabetes does not influence plasma homocysteine

scientific article published in May 2003

In memoriam: S. Harvey Mudd

scientific article published on 26 March 2015

In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies

article

Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease

scientific article published in August 2003

Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C-->T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk

scientific article published in October 2002

Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression

scientific article

Inhibition of methylation and changes in gene expression in relation to neural tube defects

scientific article published in October 2008

Inhibition of methylation decreases osteoblast differentiation via a non-DNA-dependent methylation mechanism.

scientific article published on 6 October 2009

Inhibition of transmethylation disturbs neurulation in chick embryos

scientific article published in August 2005

Insights into the Regulatory Domain of Cystathionine Beta-Synthase: Characterization of Six Variant Proteins

scientific article published on 31 July 2014

Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis.

scientific article published in November 2002

Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.

scientific article published on 23 June 2005

Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis?

scientific article published in April 1995

Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?

scientific article

Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis

scientific article published on 01 February 1997

Laser myringotomy versus ventilation tubes in children with otitis media with effusion: a randomized trial

scientific article

Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism.

scientific article

Lifestyle factors and plasma homocysteine concentrations in a general population sample

scientific article published in July 2001

Lipid peroxidation and susceptibility of low-density lipoprotein to in vitro oxidation in hyperhomocysteinaemia

scientific article published in March 1995

Lipid peroxidation in homocysteinaemia

scientific article published on 01 January 1992

Low fasting methionine concentration as a novel risk factor for recurrent venous thrombosis.

scientific article published in October 2006

Low vitamin B6, and not plasma homocysteine concentration, as risk factor for abdominal aortic aneurysm: a retrospective case-control study

scientific article published in April 2007

MRI and (1)H-MRS in adenosine kinase deficiency

scientific article published on 18 March 2016

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

scientific article

MTHFR C677T genotype as a risk factor for epilepsy including post-traumatic epilepsy in a representative military cohort.

scientific article published on 06 September 2011

MTRR 66A>G polymorphism in relation to congenital heart defects

scientific article published in January 2006

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

scientific article

Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation

scientific article published on 7 March 2006

Maternal homocysteine and chorionic vascularization in recurrent early pregnancy loss

scientific article

Maternal homocysteine and related B vitamins as risk factors for low birthweight

scientific article published on 18 April 2010

Maternal homocysteine and small-for-gestational-age offspring: systematic review and meta-analysis ⬇️

scientific article published on December 14, 2011

Maternal hyperhomocysteinemia: a risk factor for neural-tube defects?

scientific article published in December 1994

Measurement of total homocysteine concentrations in acidic citrate- and EDTA-containing tubes by different methods

scientific article published in October 2004

Metabolic syndrome components are associated with DNA hypomethylation.

scientific article published in March 2013

Methanethiol and dimethylsulfide formation from 3-methylthiopropionate in human and rat hepatocytes

scientific article published on November 1988

Methanethiol metabolism and its role in the pathogenesis of hepatic encephalopathy in rats and dogs

scientific article published on 01 April 1990

Methanethiol metabolism in whole blood

scientific article published on 01 June 1988

Methionine metabolism in an animal model of sepsis

scientific article

Methotrexate in rheumatoid arthritis: an update with focus on mechanisms involved in toxicity

scientific article published on April 1998

Methylation metabolism in sepsis and systemic inflammatory response syndrome

scientific article published on 8 April 2013

Methylation metabolites in amniotic fluid depend on gestational age.

scientific article

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

scientific article

Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages

scientific article

Methylenetetrahydrofolate reductase polymorphisms in preeclampsia and the HELLP syndrome

scientific article published on 01 January 2000

Methylmalonic acid values in healthy Dutch children

scientific article

Mid-pregnancy cotinine and risks of orofacial clefts and neural tube defects

scientific article

Migraine and MTHFR C677T genotype in a population-based sample

scientific article published in February 2006

Molecular beacons: a new approach for semiautomated mutation analysis

scientific article published on 01 March 1998

Molecular beacons: colorful analysis of nucleic acids.

scientific article

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease

scientific article published on January 1996

Molecular genetic analysis of human folate receptors in neural tube defects

scientific article published on 01 April 1999

Molecular genetic analysis of the cystathionine β-synthase gene in Portuguese homocystinuria patients: three novel mutations

article

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

scientific article

Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels.

scientific article published on 13 September 2006

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

scientific article

Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia ⬇️

scientific article published on 01 April 1998

Mutated 5,10-methylenetetrahydrofolate reductase, hyperhomocysteinemia and risk for cardiovascular disease. Nature, nurture or nonsense?

scientific article

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

scientific article published on 01 October 1995

N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors.

scientific article published in December 2009

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population

scientific article published on 08 May 2019

Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome

scientific article published in May 2002

Nested case-control study of one-carbon metabolites in mid-pregnancy and risks of cleft lip with and without cleft palate

scientific article

Neural tube defects and a disturbed folate dependent homocysteine metabolism.

scientific article

Neural tube defects and elevated homocysteine levels in amniotic fluid

scientific article published on 01 May 1995

Neural tube defects and folate: case far from closed

scientific article

Neural tube defects, folic acid and methylation

scientific article published on 17 September 2013

New method for determining cystine in leukocytes and fibroblasts

scientific article

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

scientific article

Newborn screening for homocystinurias: recent recommendations versus current practice

scientific article published on 01 January 2019

No Tryptophan, Tyrosine and Phenylalanine Abnormalities in Children with Attention-Deficit/Hyperactivity Disorder

scientific article

No added value of the methionine loading task in assessment for venous thrombosis and cardiovascular disease risk.

scientific article published in February 2006

No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy

scientific article published on 26 September 2006

No effect of folic acid supplementation on global DNA methylation in men and women with moderately elevated homocysteine

scientific article (publication date: 2011)

No evidence for a preferential transmission of the methylenetetrahydrofolate reductase 677T allele in families with schizophrenia offspring

scientific article published in October 2007

No interaction between factor V Leiden and hyperhomocysteinemia or MTHFR 677TT genotype in venous thrombosis. Results of a meta-analysis of published studies and a large case-only study

scientific article published on 01 January 2007

Non-linear associations between serum 25-OH vitamin D and indices of arterial stiffness and arteriosclerosis in an older population.

scientific article published on 19 July 2014

Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia

scientific article

Oral anticoagulant treatment with coumarin derivatives does not influence plasma homocysteine concentration

scientific article published in March 2006

Ovarian cyst fluid of serous ovarian tumors contains large quantities of the brain amino acid N-acetylaspartate

scientific article

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

scientific article

Parallel fluorescence detection of single biomolecules in microarrays by a diffractive-optical-designed 2 x 2 fan-out element

scientific article

Participation and support in intensive care as experienced by close relatives of patients: a phenomenological study

scientific article published on 28 June 2012

Persistent hypermethioninaemia with dominant inheritance.

scientific article

Pharmacokinetic study on the utilisation of 5-methyltetrahydrofolate and folic acid in patients with coronary artery disease

scientific article

Plasma B vitamins and LINE-1 DNA methylation in leukocytes of patients with a history of colorectal adenomas

scientific article published on 07 November 2012

Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers

scientific article published on 01 March 2013

Plasma folate levels are associated with the lipoprotein profile: a retrospective database analysis

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Plasma homocysteine and menopausal status

scientific article published in November 1995

Plasma homocysteine in subjects with familial combined hyperlipidemia

scientific article published in January 2003

Polymorphisms in biotransformation enzymes and the risk for recurrent early pregnancy loss

scientific article published on 01 May 2000

Polymorphisms in catechol-O-methyltransferase and methylenetetrahydrofolate reductase in relation to the risk of schizophrenia

scientific article published on 22 August 2007

Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients.

scientific article published in September 2002

Potential role for adenosine in the pathogenesis of the vascular complications of hyperhomocysteinemia.

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Prevalence of familial mild hyperhomocysteinemia

scientific article published in August 1996

Prevalences of hyperhomocysteinemia, unfavorable cholesterol profile and hypertension in European populations

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Prevention of neural tube defects by and toxicity of L-homocysteine in cultured postimplantation rat embryos

scientific article published on 01 November 1994

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine.

scientific article published on 29 August 2012

Protective effect of periconceptional folic acid supplements on the risk of congenital heart defects: a registry-based case-control study in the northern Netherlands

scientific article published in December 2009

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency

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Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells

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Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: a new screening technique for carbohydrate storage diseases

scientific article published on 01 November 1990

Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N(6)-etheno derivatives: an adaptation of previously described methodology

scientific article published in July 2002

Randomized conversion from cyclosporine to tacrolimus in renal transplant patients: improved lipid profile and unchanged plasma homocysteine levels

scientific article published in August 2002

Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

scientific article published on 01 May 1999

Recurrent early pregnancy loss and genetic-related disturbances in folate and homocysteine metabolism

scientific article published on 01 November 1997

Reduced adenosine receptor stimulation as a pathogenic factor in hyperhomocysteinemia.

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Reduced brain choline in homocystinuria due to remethylation defects

scientific article published in July 2008

Reduced plasma total homocysteine concentrations in Type 1 diabetes mellitus is determined by increased renal clearance

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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

scientific article published on 23 August 2013

Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects

scientific article published in March 2001

Reply to Donnelly

scientific article published in February 2000

Role for mitochondrial uncoupling protein-2 (UCP2) in hyperhomocysteinemia and venous thrombosis risk?

scientific article published in January 2008

Role of cobalamin intake and atrophic gastritis in mild cobalamin deficiency in older Dutch subjects

scientific article published in August 1998

Role of thrombophilic factors in full-term infants with neonatal encephalopathy

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S-Adenosylhomocysteine induces apoptosis and phosphatidylserine exposure in endothelial cells independent of homocysteine

scientific article published on 28 November 2011

S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation

scientific article published on 23 October 2015

S-adenosylmethionine and S-adenosylhomocysteine levels in the aging brain of APP/PS1 Alzheimer mice

scientific article published on 30 June 2009

S-adenosylmethionine is decreased in the cerebrospinal fluid of patients with Alzheimer's disease

scientific article published on 3 June 2010

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene

scientific article published in April 2008

Semiautomated DNA mutation analysis using a robotic workstation and molecular beacons

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Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease

scientific article published on 01 August 1997

Serum homocysteine levels in relation to clinical progression in multiple sclerosis

scientific article published in August 2008

Serum markers in relation to cognitive functioning in an aging population: results of the Maastricht Aging Study (MAAS)

scientific article published in February 2003

Simultaneous determination of asymmetric and symmetric dimethylarginine, L-monomethylarginine, L-arginine, and L-homoarginine in biological samples using stable isotope dilution liquid chromatography tandem mass spectrometry

scientific article published on 26 May 2012

Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects

scientific article published in July 2002

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C

scientific article published on 12 October 2015

Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma

scientific article published on 26 May 2005

Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

scientific article published on 3 June 2015

Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis

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The 2756A>G variant in the gene encoding methionine synthase: its relation with plasma homocysteine levels and risk of coronary heart disease in a Dutch case-control study

scientific article published in May 2003

The 677C-->T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease

scientific article published in July 1997

The 894 G > T variant of endothelial nitric oxide synthase (eNOS) increases the risk of recurrent venous thrombosis through interaction with elevated homocysteine levels

scientific article published in May 2004

The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk.

scientific article published on 4 May 2007

The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients

scientific article published in November 2001

The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia

scientific article published in June 2006

The H475Y polymorphism in the glutamate carboxypeptidase II gene increases plasma folate without affecting the risk for neural tube defects in humans

scientific article published on 01 January 2003

The association of betaine, homocysteine and related metabolites with cognitive function in Dutch elderly people

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The effect of folic acid on the homocysteine metabolism in human umbilical vein endothelial cells (HUVECs)

scientific article published on 01 April 1996

The effect of folinic acid supplementation on homocysteine concentrations in newborns.

scientific article published on 8 September 2010

The effect of homocysteine reduction by B-vitamin supplementation on inflammatory markers

scientific article published on 01 January 2007

The effect of homocysteine reduction by B-vitamin supplementation on markers of endothelial dysfunction

scientific article published on 01 November 2004

The effect of sequential three-monthly hormone replacement therapy on several cardiovascular risk estimators in postmenopausal women

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The homocysteine controversy

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The homocysteine distribution: (mis)judging the burden

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The impaired renal vasodilator response attributed to endothelium-derived hyperpolarizing factor in streptozotocin--induced diabetic rats is restored by 5-methyltetrahydrofolate

scientific article published in September 2000

The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida.

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The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population.

scientific article published on 25 September 2007

The molecular basis of Dutch infantile nephropathic cystinosis

scientific article published on 01 September 2001

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

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The nucleotide sequence of a putative membrane transport gene from Clostridium perfringens

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The origin of halitosis in cystinotic patients due to cysteamine treatment

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The ratio of S-adenosylmethione and S-adenosyl-homocysteine is increased in the brains of newborn rats in a model of valproic acid teratogenicity

scientific article published on 11 January 2012

The role of methanethiol in the pathogenesis of hepatic encephalopathy

scientific article published on 01 March 1991

Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia

scientific article published on January 1995

Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis

scientific article published on 01 February 1998

Thermolabile methylenetetrahydrofolate reductase in coronary artery disease

scientific article published on 01 October 1997

Thermolabile methylenetetrahydrofolate reductase, homocysteine, and cardiovascular disease risk: the European Concerted Action Project

scientific article published on 01 January 2003

Thiamine (vitamin B1) supplementation does not reduce fasting blood homocysteine concentration in most homozygotes for homocystinuria

scientific article published in November 1996

Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia

scientific article published on 01 September 2004

Three different methods for the determination of total homocysteine in plasma

scientific article published on 01 March 1995

Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.

scientific article published on 12 May 2009

Total homocysteine and its predictors in Dutch children

scientific article published on 01 May 2005

Transamination of methionine in humans

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Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency

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Treatment of hyperhomocysteinemia in children on dialysis by folic acid

scientific article published on 01 September 1999

Treatment of inherited homocystinurias.

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Treatment of mild hyperhomocysteinemia in vascular disease patients

scientific article published on 01 March 1994

Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients

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Umbilical choline and related methylamines betaine and dimethylglycine in relation to birth weight

scientific article published on 15 March 2013

Unfiltered coffee increases plasma homocysteine concentrations in healthy volunteers: a randomized trial

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Variability of the methionine loading test: no effect of a low protein diet

scientific article published in November 1996

Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida

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Vitamin B(12) deficiency stimulates osteoclastogenesis via increased homocysteine and methylmalonic acid.

scientific article published on 12 April 2009

Vitamin B12 insufficiency and the risk of fetal neural tube defects

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Vitamin and homocysteine status of mothers and infants and the risk of nonsyndromic orofacial clefts

scientific article published in October 2003

Vitamin supplementation reduces blood homocysteine levels: a controlled trial in patients with venous thrombosis and healthy volunteers

scientific article published on 01 March 1998

Why are homocysteine levels increased in kidney failure? A metabolic approach.

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[Extensive neonatal heel injection screening for metabolic diseases in the Netherlands]

scientific article published on 01 May 2009

[Hyperhomocysteinemia as a risk factor for venous thrombosis]

scientific article published on 01 March 1999

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