JIMD Podcasts

By: Journal of Inherited Metabolic Disease
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  • Summary

  • 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.
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Episodes
  • Footprints of IMD: Psychiatric presentations... with Gabriella Horvath

    Footprints of IMD: Psychiatric presentations... with Gabriella Horvath
    Dec 2 2024
    Dr Gabriella Horvath returns for her second visit to the podcast, joining Eva Morava to discuss psychiatric presentations of Inherited Metabolic Disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.02.007 Find IMDs associated with epilepsies at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf
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    14 mins
  • Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS

    Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS
    Nov 29 2024
    In this Shortcast Antonio Ochoa-Ferraro and Dr Charlotte Dawson share their experience using the medication Volanesorsen with two pregnant women diagnosed with familial chylomicronemia syndrome. Two successful pregnancies in patients taking Volanesorsen for familial chylomicronemia syndrome Subadra Wanninayake, et al https://doi.org/10.1002/jmd2.12435
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    8 mins
  • RNA based therapies in Urea Cycle Disorders

    RNA based therapies in Urea Cycle Disorders
    Nov 21 2024
    In the latest podcast, Dr Lourdes Desviat provides an overview of the different RNA based therapeutic approaches including how they work and which are showing promise for the management of Urea Cycle Disorders. Exploring RNA therapeutics for urea cycle disorders Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviat https://doi.org/10.1002/jimd.12807
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    15 mins

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