| Description |
1 online resource (210 pages) : illustrations |
| Series |
Medical intelligence unit |
|
Medical intelligence unit (Unnumbered : 2003)
|
| Contents |
Molecular biology of methylenetetrahydrofolate reductase (MTHFR) and overview of mutations/polymorphisms / Daniel Leclerc, Sahar Sibani and Rima Rozen -- Assays for methylenetetrahydrofolate reductase polymorphisms / Arve Ulvik and Per Magne Ueland -- Biochemical characterization of human methylenetetrahydrofolate reductase and its common variants / Kazuhiro Yamada and Rowena G. Matthews -- Severe methylenetetrahydrofolate reductase deficiency / Mary Ann Thomas and David S. Rosenblatt -- Mild MTHFR deficiency and folate status / Paul F. Jacques and Silvina Furlong Choumenkovitch -- Riboflavin and methylenetetrahydrofolate reductase / Steinar Hustad, Jorn Schneede and Per Magne Ueland -- The molecular dynamics of abnormal folate metabolism and DNA methylation implications for disease susceptibility and progression / S. Jill James -- Methylenetetrahydrofolate reductase 677C®T polymorphism and risk of arterial occlusive disease / Mariska Klerk and Petra Verhoef -- Methylenetetrahydrofolate reductase and venous thrombosis / Miranda B.A.J. Keijzer and Martin den Heijer |
|
Neural tube defects, other congenital malformations and single nucleotide polymorphisms in the 5,10 methylenetetrahydrofolate reductase (MTHFR) gene: a meta-analysis / Stein Emil Vollset and Lorenzo D. Botto -- Pregnancy complications / Willianne L.D.M. Nelen and Henk J. Blom -- Neuropsychiatric disease and methylenetetrahydrofolate reductase / B. Regland -- Methylenetetrahydrofolate reductase polymorphisms and renal failure / Manuela Füdinger and Gere Sunder-Plassmann -- MTHFR polymorphisms and colorectal neoplasia / Jimmy W. Crott and Joel B. Mason -- Methylenetetrahydrofolate reductase polymorphisms: pharmacogenetic effects / Bernd Christian Schwahn and Rima Rozen |
| Summary |
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in both folate and homocysteine metabolism. It first achieved medical recognition in 1972 with the report of severe deficiency of MTHFR in a patient with homocystinuria, an inborn error of metabolism characterized by marked elevation of homocyst(e)ine in plasma and urine. Although the majority of cases of homocystinuria are due to a deficiency of the first enzyme in the transsulfuration pathway for homocysteine metabolism, cystathionine-ß-synthase (CBS), disruption of homocysteine remethylation to methionine can also result in ho |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002. http://purl.oclc.org/DLF/benchrepro0212 MiAaHDL |
|
Print version record |
|
digitized 2023. HathiTrust Digital Library committed to preserve pda MiAaHDL |
| Subject |
Methylenetetrahydrofolate reductase -- Pathophysiology
|
|
Isoenzymes -- Pathophysiology
|
|
Genetic polymorphisms.
|
|
Genetic disorders.
|
|
Polymorphism, Genetic
|
|
Genetic Diseases, Inborn
|
|
Methylenetetrahydrofolate Reductase (NADPH2) -- deficiency
|
|
Methylenetetrahydrofolate Reductase (NADPH2) -- physiology
|
|
Risk Factors
|
|
HEALTH & FITNESS -- Diseases -- Genetic.
|
|
MEDICAL -- Genetics.
|
|
Genetic disorders
|
|
Genetic polymorphisms
|
| Form |
Electronic book
|
| Author |
Ueland, Per Magne
|
|
Rozen, Rima
|
| ISBN |
1423735145 |
|
9781423735144 |
|
1598758667 |
|
9781598758665 |
|
9781587063978 |
|
1587063972 |
|
