Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L
about
Choline: critical role during fetal development and dietary requirements in adultsEpigenetic mechanisms for nutrition determinants of later health outcomesCrystal structure and solution characterization of the activation domain of human methionine synthaseConcept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesInborn errors of cobalamin absorption and metabolism.Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.Update and new concepts in vitamin responsive disorders of folate transport and metabolism.Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.Perinatal choline influences brain structure and function.Acquired and inherited disorders of cobalamin and folate in children.Choline deficiency in mice and humans is associated with increased plasma homocysteine concentration after a methionine load.Mathematical Modeling of Glutathione Status in Type 2 Diabetics with Vitamin B12 Deficiency.Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for cholineMurine models of hyperhomocysteinemia and their vascular phenotypesGenetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.Genetic mediators of neurocognitive outcomes in survivors of childhood acute lymphoblastic leukemiaImportance of methyl donors during reproduction.Hyperhomocysteinemia and lower extremity wounds.Improvement of gamete quality by stimulating and feeding the endogenous antioxidant system: mechanisms, clinical results, insights on gene-environment interactions and the role of diet.Homocysteine Level and Mechanisms of Injury in Parkinson's Disease as Related to MTHFR, MTR, and MTHFD1 Genes Polymorphisms and L-Dopa Treatment.Genetic and epigenomic footprints of folate.Hyperhomocysteinemia: Impact on Neurodegenerative Diseases.Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.A B12-responsive internal ribosome entry site (IRES) element in human methionine synthase.The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.Defective MTR causes methylmalonic aciduria and homocystinuria type cblGDefective MTR does not transfer CH3 group from MTHF to cob(I)alaminDefective MTR does not transfer CH3 group from MeCbl to HCYSDo novel risk biomarkers reflect the severity of peripheral arterial disease?
P2860
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P2860
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L
description
2002 nî lūn-bûn
@nan
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@ast
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@en
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@nl
type
label
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@ast
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@en
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@nl
prefLabel
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@ast
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@en
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@nl
P2093
P2860
P3181
P356
P1476
Hyperhomocysteinemia due to me ...... n of a common mutation, P1173L
@en
P2093
Aaron Wilson
Angela Hosack
Angus Murray
Barry Shane
Carole Doré
Caroline D Kim
David S Rosenblatt
David Watkins
Helen Legakis
P2860
P304
P3181
P356
10.1086/341354
P407
P577
2002-07-01T00:00:00Z