Episodios

  • 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 m
  • 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 m
  • 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 m
  • Footprints of IMD: Metabolic myopathies... with Corrado Angelini

    Footprints of IMD: Metabolic myopathies... with Corrado Angelini
    Sep 9 2024
    Professor Corrado Angelini joins Eva Morava to discuss the footprints of metabolic myopathies, why they are so common and when they should be suspected. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2022.09.004 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/Footprints_myopathies_table%20151022.pdf
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    18 m
  • SSIEM 2024 Day 4 - One eye on Porto, one on Kyoto

    SSIEM 2024 Day 4 - One eye on Porto, one on Kyoto
    Sep 6 2024
    Concluding our limited series related to the SSIEM 2024 meeting in Porto. We reflect on Day 3 and modelling disease through organoids, nursing in IMD investigation of hypoglycaemia. We also hear more about dolichol metabolism and George Komrower.
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    10 m
  • SSIEM2024 Day 3 - Definitely not brains in jars

    SSIEM2024 Day 3 - Definitely not brains in jars
    Sep 5 2024
    Thoughts on the second day of SSIEM 2024 annual symposium and a little preview of day 3.
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    9 m
  • SSIEM2024 Day 2 - Should we screen new adults?

    SSIEM2024 Day 2 - Should we screen new adults?
    Sep 4 2024
    A look back on the first day of the SSIEM 2024 Annual Symposium and a preview of Day 2 with Rodrigo Starosta co-hosting.
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    7 m
  • SSIEM2024 Day 1 - Making you feel uncomfortable

    SSIEM2024 Day 1 - Making you feel uncomfortable
    Sep 2 2024
    The first of a series of podcasts accompanying the 2024 annual symposium of the SSIEM 2024. In this episode Dr Dulce Quelhas reflects on her plans for the meeting and just how long it has been gestating. Stay tuned for daily content.
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    11 m