Characterising late-onset MTHFR deficiency
Dr Cecilia Marelli and Dr Fanny Mochel discuss th…
An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Characterising late-onset MTHFR deficiency" was published on November 20, 2020 and runs 14 minutes.
November 20, 2020 ·14m · JIMD Podcasts
Summary
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
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