Disease: Methylenetetrahydrofolate reductase deficiency
- A case of MTHFR deficiency characterized by adult-onset spastic paraplegia
- Adolescent/Adult-Onset Leukodystrophy with MTHFR Deficiency - A Treatable Cause
- Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency
- Associations of serum 25-hydroxyvitamin D with serum folate, cobalanin, and homocysteine concentrations and methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in healthy adults
- Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on <em>5,10-methylenetetrahydrofolate reductase</em> and multi-vitamin deficiency
- Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy
- Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn
- Effects of Folic Acid Supplementation on Liver Enzymes, Lipid Profile, and Insulin Resistance in Patients with Non-Alcoholic Fatty Liver Disease: A Randomized Controlled Trial
- Endothelial dysfunction, thrombophilia, and nailfold capillaroscopic features in livedoid vasculopathy
- Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
- Folate-dependent hypermobility syndrome: A proposed mechanism and diagnosis
- Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases
- From resveratrol to ISIDE11: how to activate SIRT1 and improve endothelial function? New therapeutic insights for methylenetetrahydrofolate reductase deficiency
- Gender-specific association of SLC19A1 and MTHFR genetic polymorphism with oxidative stress biomarkers and plasma folate levels in older adults
- Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
- Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report
- Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment
- Ischaemic stroke with multi-focal venous and arterial thrombosis due to hyperhomocysteinemia: anabolic androgenic steroid use and MTHFR c.667 C > T variant - a case report
- Late-onset 5,10-methylenetetrahydrofolate reductase deficiency with subacute disturbance of consciousness
- Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish
- Mild methylenetetrahydrofolate reductase deficiency accelerates liver triacylglycerol and uric acid accumulation in fructose-fed mice
- MTHFR Deficiency in Biological Siblings Diagnosed With Autism and Attention-Deficit Hyperactivity Disorder (ADHD): A Report of Two Cases
- Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency
- Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
- Postauthorization safety study of betaine anhydrous
- Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
- Prothrombotic states in portal vein thrombosis and Budd-Chiari syndrome in India: A systematic review and meta-analysis
- Quantification of individual remyelination during short-term disease course by synthetic magnetic resonance imaging
- Recurrent MiscarriageGreen-top Guideline No. 17
- SIRT1 pharmacological activation rescues vascular dysfunction and prevents thrombosis in MTHFR deficiency
- Yoga: A Natural Solution to Decrease Disease Burden in Children of MTHFR Deficient Parents