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JIMD Podcasts

JIMD Podcasts

Auteur(s): Journal of Inherited Metabolic Disease
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 JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.All rights reserved Science
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  • Adenosine Kinase

    Adenosine Kinase
    Sep 9 2025
    What if one enzyme could link metabolism, epigenetics, and therapy across conditions as diverse as epilepsy, cancer, and inflammation? In this episode, we dive into the fascinating world of adenosine kinase (ADK), an ancient enzyme that controls adenosine levels, energy balance, and even DNA methylation. Dr Detlev Boison join us to discuss their recent review in the Journal of Inherited Metabolic Disease, which reframes ADK not just as a metabolic regulator, but as a potential epigenetic drug target. From seizure suppression to cancer immunology, ADK sits at a crossroads, and could be a future key to metabolic and epigenetic medicine. Adenosine Kinase: An Epigenetic Modulator and Drug Target Uchenna Peter-Okaka, Detlev Boison https://doi.org/10.1002/jimd.70033
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    24 min
  • Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari

    Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari
    Sep 2 2025
    The first updated Footprints article requires two guests to do it justice - Dr Dakota Peacock and Dr Darius Ebrahimi-Fakhari join Eva Morava to discuss movement disorders in Inherited Metabolic Disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2025.109084 Find IMDs associated with psychiatric presentations at: https://www.iembase.org/gamuts/store/docs/Movement_disorders_update.pdf
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    21 min
  • Metabolic mysteries: Incidental adrenal calcifications in a neonate

    Metabolic mysteries: Incidental adrenal calcifications in a neonate
    Aug 26 2025
    A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery. Read the full report here: https://doi.org/10.1136/bcr-2025-265278
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    6 min
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