| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| J H Yoo, G D Choi, S S Kan. Pathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia. Arteriosclerosis, thrombosis, and vascular biology. vol 20. issue 8. 2000-08-31. PMID:10938012. |
similar to the relationship between homocystinuria due to severe mthfr deficiency and severe cystathionine beta-synthase deficiency, the tt genotype of mthfr in hyperhomocyst(e)inemic subjects is differentiated from the cases of the tt genotype without hyperhomocyst(e)inemia or hyperhomocyst(e)inemia without the tt genotype in the development of cerebrovascular disease. |
2000-08-31 |
2023-08-12 |
human |
| S Sibani, B Christensen, E O'Ferrall, I Saadi, F Hiou-Tim, D S Rosenblatt, R Roze. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Human mutation. vol 15. issue 3. 2000-05-04. PMID:10679944. |
characterization of six novel mutations in the methylenetetrahydrofolate reductase (mthfr) gene in patients with homocystinuria. |
2000-05-04 |
2023-08-12 |
Not clear |
| L A Kluijtmans, G H Boers, B Verbruggen, F J Trijbels, I R Novakova, H J Blo. Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood. vol 91. issue 6. 1998-04-09. PMID:9490685. |
we studied 24 patients with homocystinuria caused by homozygous cbs deficiency from 18 unrelated kindreds for fvl and for the 677c-->t mutation in the methylenetetrahydrofolate reductase (mthfr) gene and investigated their possible interaction in the risk of venous thrombosis. |
1998-04-09 |
2023-08-12 |
Not clear |
| L A Kluijtmans, G H Boers, B Verbruggen, F J Trijbels, I R Novakova, H J Blo. Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood. vol 91. issue 6. 1998-04-09. PMID:9490685. |
on the contrary, thermolabile mthfr caused by the 677c-->t mutation, was frequently observed among homocystinuria patients, especially among those with thromboembolic complications: three of six homocystinuria patients who had suffered from a thromboembolic event had thermolabile mthfr. |
1998-04-09 |
2023-08-12 |
Not clear |
| L A Kluijtmans, G H Boers, B Verbruggen, F J Trijbels, I R Novakova, H J Blo. Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. Blood. vol 91. issue 6. 1998-04-09. PMID:9490685. |
these data indicate that fvl is not an absolute prerequisite and probably not even a major determinant of venous thrombosis in homocystinuria, but, interestingly, thermolabile mthfr may constitute a significant risk factor for thromboembolic complications in this inborn error of methionine metabolism. |
1998-04-09 |
2023-08-12 |
Not clear |
| P Goyette, P Frosst, D S Rosenblatt, R Roze. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. American journal of human genetics. vol 56. issue 5. 1995-05-24. PMID:7726158. |
patients with an autosomal recessive severe deficiency of mthfr have homocystinuria and a wide range of neurological and vascular disturbances. |
1995-05-24 |
2023-08-12 |
Not clear |
| T Takenaka, T Shimomura, H Nakayasu, K Urakami, K Takahash. [Effect of folic acid for treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency]. Rinsho shinkeigaku = Clinical neurology. vol 33. issue 11. 1994-04-08. PMID:8124871. |
deficiency of 5,10-methylenetetrahydrofolate reductase (mthfr) leads to deficient remethylation of homocysteine and is one of the causes of homocystinuria. |
1994-04-08 |
2023-08-12 |
Not clear |
| T Takenaka, T Shimomura, H Nakayasu, K Urakami, K Takahash. [Effect of folic acid for treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency]. Rinsho shinkeigaku = Clinical neurology. vol 33. issue 11. 1994-04-08. PMID:8124871. |
a diagnosis of homocystinuria due to mthfr deficiency was made. |
1994-04-08 |
2023-08-12 |
Not clear |