HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.
|
29391032 |
2018 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
|
27743313 |
2017 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria.
|
27130656 |
2016 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
|
25736335 |
2015 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
|
25736335 |
2015 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association between methylenetetrahydrofolate reductase C677T polymorphism and epilepsy susceptibility: a meta-analysis.
|
24556013 |
2014 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
|
20236116 |
2010 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
|
20356773 |
2010 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
|
12733064 |
2003 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
To investigate the in vivo pathogenetic mechanisms of MTHFR deficiency, we generated mice with a knockout of MTHFR: Plasma total homocysteine levels in heterozygous and homozygous knockout mice are 1.6- and 10-fold higher than those in wild-type littermates, respectively.
|
11181567 |
2001 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
|
10679944 |
2000 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The ongoing identification and characterisation of mutations in the MTHFR gene will provide further insight into the heterogeneity of the clinical phenotype in severe MTHFR deficiency.
|
9781030 |
1998 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
|
8940272 |
1996 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
|
7726158 |
1995 |
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
|
7920641 |
1994 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
|
27743313 |
2017 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria.
|
27130656 |
2016 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
|
25736335 |
2015 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
|
20356773 |
2010 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.
|
12733064 |
2003 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
To investigate the in vivo pathogenetic mechanisms of MTHFR deficiency, we generated mice with a knockout of MTHFR: Plasma total homocysteine levels in heterozygous and homozygous knockout mice are 1.6- and 10-fold higher than those in wild-type littermates, respectively.
|
11181567 |
2001 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.
|
7920641 |
1994 |
Methylenetetrahydrofolate reductase deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|