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: Metabolic cardiovascular disease... with Carlos Ferreira

    Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira
    Oct 4 2024
    Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf
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    30 mins
  • Neuronopathic gaucher disease

    Neuronopathic gaucher disease
    Sep 27 2024
    Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments. Neuronopathic Gaucher disease: Rare in the West, common in the East Ozlem Goker-Alpan, Margarita M. Ivanova https://doi.org/10.1002/jimd.12749
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    25 mins
  • Chorioretinopathy In LCHADD

    Chorioretinopathy In LCHADD
    Sep 13 2024
    Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy Melanie B. Gillingham, et al https://doi.org/10.1002/jimd.12738
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    14 mins
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