Title MTHFR polymorphisms and disease / [edited by] Per Magne Ueland, Rima Rozen

Published Georgetown, Tex. : Landes Bioscience : Eurekah.com, ©2005

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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

Other Titles Polymorphisms and disease

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