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Characterising late-onset MTHFR deficiency episode artwork

EPISODE · Nov 20, 2020 · 14 MIN

Characterising late-onset MTHFR deficiency

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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

What this episode covers

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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Characterising late-onset MTHFR deficiency

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Frequently Asked Questions

How long is this episode of JIMD Podcasts?

This episode is 14 minutes long.

When was this JIMD Podcasts episode published?

This episode was published on November 20, 2020.

What is this episode about?

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,...

Can I download this JIMD Podcasts episode?

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