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A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

American journal of human genetics, 1998-05, Vol.62 (5), p.1044-1051

1998

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Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

The Lancet (British edition), 1995-10, Vol.346 (8982), p.1070-1071

1995

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

Journal of molecular medicine (Berlin, Germany), 1996-11, Vol.74 (11), p.691-694

1996

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Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

Neuropediatrics, 2005-06, Vol.36 (3), p.193

2005

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Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1091-1097

2005

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

American journal of human genetics, 1996-01, Vol.58 (1), p.35-41

1996

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The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.212-213

2006

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

American journal of human genetics, 1995, Vol.56 (1), p.142-150

1995

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Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease

The New England journal of medicine, 1985-09, Vol.313 (12), p.709-715

1985

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

Metabolism, clinical and experimental, 1994-12, Vol.43 (12), p.1475-1480

1994

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Molecular beacons: a new approach for semiautomated mutation analysis

Clinical chemistry (Baltimore, Md.), 1998-03, Vol.44 (3), p.482-486

1998

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

Fertility and sterility, 1993-11, Vol.60 (5), p.820-825

1993

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The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment

American journal of human genetics, 1999-07, Vol.65 (1), p.59-67

1999

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Annals of neurology, 1999-06, Vol.45 (6), p.787-790

1999

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Role of intraduodenal proteases in plasma cholecystokinin and pancreaticobiliary responses to protein and amino acids

Gastroenterology (New York, N.Y. 1943), 1996-02, Vol.110 (2), p.567-575

1996

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

Clinical genetics, 1998-02, Vol.53 (2), p.119-125

1998

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

European journal of clinical investigation, 1995-03, Vol.25 (3), p.149-154

1995

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Three Different Methods for the Determination of Total Homocysteine in Plasma

Annals of clinical biochemistry, 1995-03, Vol.32 (2), p.218-220

1995

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Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae

The Lancet (British edition), 1992-05, Vol.339 (8801), p.1122-1123

1992

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Folate, Homocysteine and Neural Tube Defects: An Overview

Experimental biology and medicine (Maywood, N.J.), 2001-04, Vol.226 (4), p.243-270

2001

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Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years

The Journal of clinical investigation, 1983-12, Vol.72 (6), p.1971-1976

1983

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

Blood, 1998-03, Vol.91 (6), p.2015-2018

1998

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

Journal of molecular medicine (Berlin, Germany), 2001-09, Vol.79 (9), p.522-528

2001

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Cholestyramine Influences Meal-Stimulated Pancreaticobiliary Function and Plasma Cholecystokinin Independent of Gastric Emptying and Food Digestion

Scandinavian journal of gastroenterology, 1997, Vol.32 (8), p.778-784

1997

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Deficiency of the voltage-dependent anion channel : A novel cause of mitochondriopathy

Pediatric research, 1996-05, Vol.39 (5), p.760-765

1996

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A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

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

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system

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

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

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

Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease

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

Molecular beacons: a new approach for semiautomated mutation analysis

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

The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

Role of intraduodenal proteases in plasma cholecystokinin and pancreaticobiliary responses to protein and amino acids

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

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

Three Different Methods for the Determination of Total Homocysteine in Plasma

Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae

Folate, Homocysteine and Neural Tube Defects: An Overview

Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years

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

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

Cholestyramine Influences Meal-Stimulated Pancreaticobiliary Function and Plasma Cholecystokinin Independent of Gastric Emptying and Food Digestion

Deficiency of the voltage-dependent anion channel : A novel cause of mitochondriopathy

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