Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency
Gawa Bidla, David Watkins, Céline Chéry, D. Sean Froese, Courtney Ells, Matin Kerachian, Avi Saskin, Karen E. Christensen, Brian M. Gilfix, Jean‐Louis Guéant, David S. Rosenblatt
Topics & Concepts
Megaloblastic anemiaMethionine synthaseHomocysteineMethionineMethylenetetrahydrofolate reductaseHyperhomocysteinemiaBiologyVitamin B12Internal medicineBiochemistryEndocrinologyMolecular biologyMedicineGenotypeGeneAmino acidFolate and B Vitamins ResearchBiochemical and Molecular ResearchRNA modifications and cancer