Literature DB >> 917613

Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydrofolate reductase deficiency.

D S Rosenblatt, R W Erbe.   

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Year:  1977        PMID： 917613     DOI： 10.1203/00006450-197711000-00005

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  9 in total

1.  Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase.

Authors:  K Yamada; Z Chen; R Rozen; R G Matthews
Journal:  Proc Natl Acad Sci U S A       Date:  2001-12-11       Impact factor: 11.205

2.  Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

Authors:  P Goyette; B Christensen; D S Rosenblatt; R Rozen
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

3.  Folate distribution in cultured human cells. Studies on 5,10-CH2-H4PteGlu reductase deficiency.

Authors:  D S Rosenblatt; B A Cooper; S Lue-Shing; P W Wong; S Berlow; K Narisawa; R Baumgartner
Journal:  J Clin Invest       Date:  1979-05       Impact factor: 14.808

4.  Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

Authors:  P Goyette; P Frosst; D S Rosenblatt; R Rozen
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

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

Authors:  A M Engbersen; D G Franken; G H Boers; E M Stevens; F J Trijbels; H J Blom
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

6.  Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.

Authors:  T Kishi; I Kawamura; Y Harada; T Eguchi; N Sakura; K Ueda; K Narisawa; D S Rosenblatt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

Authors:  S S Kang; P W Wong; A Susmano; J Sora; M Norusis; N Ruggie
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

8.  Advances in Nutritional Epigenetics-A Fresh Perspective for an Old Idea. Lessons Learned, Limitations, and Future Directions.

Authors:  Lynda Sedley
Journal:  Epigenet Insights       Date:  2020-12-18

9.  Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision.

Authors:  Anne-Sophie Biesalski; Sabine Hoffjan; Ruth Schneider; Huu Phuc Nguyen; Gabriele Dekomien; Thomas Lücke; Christiane Schneider-Gold; Britta Matusche; Ralf Gold; Ilya Ayzenberg
Journal:  J Neurol       Date:  2021-10-17       Impact factor: 4.849
  9 in total

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