Disease: Homocystinuria due to defect in methylation- MTHFR deficiency
- Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
- Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies
- Cystathionine betasynthase and MTHFR deficiencies in adults
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
- Homocystinuria diagnosis and management: it is not all classical
- Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency
- Hyperhomocysteinaemia
- Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?. 1. Basic data
- Isolated remethylation disorders: do our treatments benefit patients?
- Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients
- Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency
- Maternal Folic Acid Intake and Methylation Status of Genes Associated with Ventricular Septal Defects in Children: Case-Control Study
- Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects
- Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy
- Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition
- Moderate Folic Acid Supplementation in Pregnant Mice Results in Altered Methyl Metabolism and in Sex-Specific Placental Transcription Changes
- MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
- Newborn screening for homocystinurias: Recent recommendations versus current practice
- Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
- Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences
- Postauthorization safety study of betaine anhydrous
- Remethylation disorders: about two cases
- Risk factors for cardiovascular diseases: what is the role for homocysteine?
- Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation
- The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways
- When to measure plasma homocysteine and how to place it in context: The homocystinurias