Dr Cecilia Marelli and Dr Fanny Mochel discuss their recent work, looking at the largest case series of adults with late-onset MTHFR deficiency described so far. They discuss the clinical phenotype and diagnostic approach to this treatable, neurodegenerative disorder.
Clinical and molecular characterization of adult patients
Cecilia Marelli et al.
https://doi.org/10.1002/jimd.12323
