| Document Type
|
:
|
BL
|
| Record Number
|
:
|
780214
|
| Doc. No
|
:
|
b600221
|
| Main Entry
|
:
|
[edited by] Per Magne Ueland, Rima Rozen.
|
| Title & Author
|
:
|
MTHFR polymorphisms and disease\ [edited by] Per Magne Ueland, Rima Rozen.
|
| Publication Statement
|
:
|
Georgetown, Tex.: Eurekah.com, ©2005.
|
| Series Statement
|
:
|
Medical intelligence unit (Unnumbered : 2003)
|
| Page. NO
|
:
|
(210 pages) : illustrations
|
| ISBN
|
:
|
1423735145
|
|
|
:
|
: 1587063972
|
|
|
:
|
: 1598758667
|
|
|
:
|
: 9781423735144
|
|
|
:
|
: 9781587063978
|
|
|
:
|
: 9781598758665
|
| 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.
|
| Abstract
|
:
|
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.
|
| Subject
|
:
|
Isoenzymes -- Pathophysiology.
|
| Subject
|
:
|
Methylenetetrahydrofolate reductase -- Pathophysiology.
|
| Subject
|
:
|
Polymorphism, Genetic.
|
| LC Classification
|
:
|
QP603.M48E358 2005
|
| Added Entry
|
:
|
Per Magne Ueland
|
|
|
:
|
Rima Rozen
|
| Parallel Title
|
:
|
Polymorphisms and disease
|