Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.

Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase.

Impaired folate metabolism reshapes auditory response profiles and impairs loudness perception in MTHFR-deficient mice.

Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.

RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.

Clinical, biochemical, molecular characteristics and clinical outcome of hyperhomocysteinemia in Malaysian children.

Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.

MTHFR gene polymorphisms in diabetes mellitus.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

[Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency].

Late-onset 5,10-methylenetetrahydrofolate reductase deficiency with subacute disturbance of consciousness.

A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.

Dental complications in homocystinurias.

Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan.

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Adolescent/Adult-Onset Leukodystrophy with MTHFR Deficiency - A Treatable Cause.

Yoga: A Natural Solution to Decrease Disease Burden in Children of MTHFR Deficient Parents.

Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.

Mild methylenetetrahydrofolate reductase deficiency accelerates liver triacylglycerol and uric acid accumulation in fructose-fed mice.

From resveratrol to ISIDE11: how to activate SIRT1 and improve endothelial function? New therapeutic insights for methylenetetrahydrofolate reductase deficiency.

SIRT1 pharmacological activation rescues vascular dysfunction and prevents thrombosis in MTHFR deficiency.

Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.

Postauthorization safety study of betaine anhydrous.

A Glance into MTHFR Deficiency at a Molecular Level.

Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.

Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

Shifting landscapes of human MTHFR missense-variant effects.

Maternal Folic Acid Intake and Methylation Status of Genes Associated with Ventricular Septal Defects in Children: Case-Control Study.

Paternal MTHFR deficiency leads to hypomethylation of young retrotransposons and reproductive decline across two successive generations.

Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-Specific Placental Transcription Changes.

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.

Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.

Development of a Pharmacogenetic Lab-on-Chip Assay Based on the In-Check Technology to Screen for Genetic Variations Associated to Adverse Drug Reactions to Common Chemotherapeutic Agents.

The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.

L-methylfolate, a new option in psychiatric treatment, would it be linked to psoriasis relapse?

[Remethylation disorders: about two cases].

Association between MTHFR polymorphisms (MTHFR C677T, MTHFR A1298C) and recurrent implantation failure: a systematic review and meta-analysis.

Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases.

Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy.

[Cerebral sinovenous thrombosis in a newborn with mutation of MTHFR C677T treated with enoxaparin].

Methylenetetrahydrofolate Reductase Deficiency: A Case Report.

Methylene Tetrahydrofolate Reductase Deficiency.

Methylenetetrahydrofolate reductase deficiency alters cellular response after ischemic stroke in male mice.

Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency.

An unusually high plasma concentration of homocysteine resulting from a combination of so-called "secondary" etiologies.

Adult-onset methylenetetrahydrofolate reductase deficiency.

SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis.

[Methylenetetrahydrofolate Reductase deficiency and anesthesia: importance of a detailed preoperative evaluation].

Early treatment using betaine and methionine for a neonate with MTHFR deficiency.

Determination and interpretation of MTHFR gene mutations in gynecology and internal medicine.

Associations between Folate Metabolism Enzyme Polymorphisms and Lung Cancer: A Meta-Analysis.

Folate, genomic stability and colon cancer: The use of single cell gel electrophoresis in assessing the impact of folate in vitro, in vivo and in human biomonitoring.

Hyperhomocysteinemia: a trigger for complement-mediated TMA?

Beyond evidence-based treatment of bipolar disorder: Rational pragmatic approaches to management.

Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms with Neural Tube Defects in Tunisian Parents.

The MTHFR 677C>T polymorphism is associated with unmetabolized folic acid in breast milk in a cohort of Canadian women.

Differential global and MTHFR gene specific methylation patterns in preeclampsia and recurrent miscarriages: A case-control study from North India.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Mild Methylenetetrahydrofolate Reductase Deficiency Alters Inflammatory and Lipid Pathways in Liver.

Early Manifestations of Brain Aging in Mice Due to Low Dietary Folate and Mild MTHFR Deficiency.

The Effects of Homocysteine on the Skeleton.

Prevalence of factor V leiden, MTHFR C677T and MTHFR A1298C polymorphisms in patients with deep vein thrombosis in Central Iran.

Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies.

Homocysteine and Hyperhomocysteinaemia.

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.

A comparison of the genetic and clinical risk factors for arterial hypertension between indigenous and non-indigenous people of the Shoria Mountain Region.

Venous thromboembolism due to hyperhomocysteinaemia and tuberculosis.

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism.

MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.

Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation.

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Homocysteine Metabolism, Atherosclerosis, and Diseases of Aging.

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.

Hyperhomocysteinemia-induced upper extremity deep vein thrombosis and pulmonary embolism in a patient with methyltetrahydrofolate reductase mutation: a case report and literature review.

Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice.