Related references
Note: Only part of the references are listed.Severe Methylenetetrahydrofolate Reductase Deficiency Clinical Clues to a Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraplegia
Alexander Lossos et al.
JAMA NEUROLOGY (2014)
Blood Pressure in Treated Hypertensive Individuals With the MTHFR 677TT Genotype Is Responsive to Intervention With Riboflavin Findings of a Targeted Randomized Trial
Carol P. Wilson et al.
HYPERTENSION (2013)
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects
Eva Richard et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2013)
Methylenetetrahydrofolate Reductase (MTHFR) Deficiency Presenting as a Rash
Ellen Crushell et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Update and new concepts in vitamin responsive disorders of folate transport and metabolism
David Watkins et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations
Deborah Bathgate et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)
Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population
Marketa Pavlikova et al.
JOURNAL OF NUTRITION (2012)
A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews
Shay Ben-Shachar et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
David Coelho et al.
NATURE GENETICS (2012)
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant
Megumi Tsuji et al.
BRAIN & DEVELOPMENT (2011)
Isolated remethylation disorders: do our treatments benefit patients?
Manuel Schiff et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency
R. Urreizti et al.
CLINICAL GENETICS (2010)
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients
Thierry Forges et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Functional Role for the Conformationally Mobile Phenylalanine 223 in the Reaction of Methylenetetrahydrofolate Reductase from Escherichia coli
Moon N. Lee et al.
BIOCHEMISTRY (2009)
The prevalence of folate-remedial MTHFR enzyme variants in humans
Nicholas J. Marini et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency
Kevin A. Strauss et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Structural perturbations in the Ala → Val polymorphism of methylenetetrahydrofolate reductase:: How binding of folates may protect against inactivation
R Pejchal et al.
BIOCHEMISTRY (2006)
Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics
Yvette N. Martin et al.
PHARMACOGENETICS AND GENOMICS (2006)
Structures of NADH and CH3-H4folate complexes of Escherichia coli methylenetetrahydrofolate reductase reveal a Spartan strategy for a ping-pong reaction
R Pejchal et al.
BIOCHEMISTRY (2005)
Patterns of co-occurrence of three single nucleotide polymorphisms of the 5,10-methylenetetrahydrofolate reductase gene in kidney transplant recipients
WC Winkelmayer et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2004)
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency
C Tonetti et al.
EUROPEAN JOURNAL OF PEDIATRICS (2003)
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation
S Sibani et al.
HUMAN MUTATION (2003)
Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms
P Tran et al.
MAMMALIAN GENOME (2002)
Genetic Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas;: a report of a novel MTHFR polymorphic site, G1793A
PL Rady et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase
K Yamada et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)