عنوان

MTHFR polymorphisms and disease

شابک

1423735145

شابک

1587063972

شابک

1598758667

شابک

9781423735144

شابک

9781587063978

شابک

9781598758665

شماره

b600221

عنوان اصلي

MTHFR polymorphisms and disease

نام عام مواد

[Book]

نام نخستين پديدآور

[edited by] Per Magne Ueland, Rima Rozen.

محل نشرو پخش و غیره

Georgetown, Tex.

نام ناشر، پخش کننده و غيره

Eurekah.com

تاریخ نشرو بخش و غیره

©2005.

نام خاص و کميت اثر

(210 pages) : illustrations

عنوان فروست

Medical intelligence unit (Unnumbered : 2003)

متن يادداشت

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.

متن يادداشت

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.

عنوان اصلي به زبان ديگر

Polymorphisms and disease

موضوع مستند نشده

Isoenzymes -- Pathophysiology.

موضوع مستند نشده

Methylenetetrahydrofolate reductase -- Pathophysiology.

موضوع مستند نشده

Polymorphism, Genetic.

شماره رده

نشانه اثر

مستند نام اشخاص تاييد نشده

[edited by] Per Magne Ueland, Rima Rozen.

مستند نام اشخاص تاييد نشده

Per Magne Ueland

مستند نام اشخاص تاييد نشده

Rima Rozen

نام الکترونيکي

نوع ماده

[Book]

تكميل شده

Y