Mutation update and review of severe methylenetetrahydrofolate reductase deficiency
DS Froese, M Huemer, T Suormala, P Burda… - Human …, 2016 - Wiley Online Library
ABSTRACT Severe 5, 10‐methylenetetrahydrofolate reductase (MTHFR) deficiency is
caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying …
caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying …
Insights into severe 5, 10‐methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients
P Burda, A Schäfer, T Suormala, T Rummel… - Human …, 2015 - Wiley Online Library
Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited
disorder of folate metabolism and causes severe hyperhomocysteinaemia. To better …
disorder of folate metabolism and causes severe hyperhomocysteinaemia. To better …
[PDF][PDF] Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
LAJ Kluijtmans, U Wendel, E Stevens… - European Journal of …, 1998 - researchgate.net
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is an inborn error of folate
metabolism, and is inherited as an autosomal recessive trait. MTHFR is a key enzyme in …
metabolism, and is inherited as an autosomal recessive trait. MTHFR is a key enzyme in …
Annotation Molecular genetics of methylenetetrahydrofolate reductase deficiency
R Rozen - Journal of inherited metabolic disease, 1996 - Wiley Online Library
In severe MTHFR deficiency with neonatal or adolescent onset, 9 rare mutations have been
identified. In mild MTHFR deficiency with thermolabile enzyme, a single common mutation …
identified. In mild MTHFR deficiency with thermolabile enzyme, a single common mutation …
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
M Huemer, R Mulder-Bleile, P Burda… - Journal of inherited …, 2016 - Springer
Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare
inborn defect disturbing the remethylation of homocysteine to methionine (< 200 reported …
inborn defect disturbing the remethylation of homocysteine to methionine (< 200 reported …
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutation
S Sibani, D Leclerc, IS Weisberg, E O'Ferrall… - Human …, 2003 - Wiley Online Library
Abstract Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5‐
methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine …
methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine …
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency
C Tonetti, JM Saudubray, B Echenne… - European journal of …, 2003 - Springer
Methylenetetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive
disorder resulting in elevated homocysteine levels in plasma and urine. MTHFR catalyses …
disorder resulting in elevated homocysteine levels in plasma and urine. MTHFR catalyses …
The thermolabile variant 677C→ T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase
P Goyette, R Rozen - Human mutation, 2000 - Wiley Online Library
Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of 5, 10‐
methylenetetrahydrofolate to 5‐methyltetrahydrofolate, a carbon donor for homocysteine …
methylenetetrahydrofolate to 5‐methyltetrahydrofolate, a carbon donor for homocysteine …
MTHFR: addressing genetic counseling dilemmas using evidence-based literature
BL Levin, E Varga - Journal of genetic counseling, 2016 - Springer
Abstract The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the
folate metabolism pathway, the byproducts of which are involved in the remethylation of …
folate metabolism pathway, the byproducts of which are involved in the remethylation of …
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common
inborn error of folate metabolism. Patients are characterized by severe …
inborn error of folate metabolism. Patients are characterized by severe …