JIMD Podcasts

De: Journal of Inherited Metabolic Disease
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  • Resumen

  • 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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Episodios
  • Flies, plants and classic galactosemia

    Flies, plants and classic galactosemia
    Aug 30 2024
    Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. melanogaster model of classic galactosemia Jennifer M. I. Daenzer, et al https://doi.org/10.1002/jimd.12774
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    21 m
  • Fatty acid homeostasis

    Fatty acid homeostasis
    Aug 16 2024
    Professors Fréd Vaz and Ronald Wanders present an entertaining and informative overview of fatty acid homeostasis and explain why the catabolic and anabolic processes cannot be considered separately. Disorders of fatty acid homeostasis Frédéric M. Vaz, et al https://doi.org/10.1002/jimd.12734
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    18 m
  • Metabolic mysteries: Progressive neurological symptoms after a change in diet

    Metabolic mysteries: Progressive neurological symptoms after a change in diet
    Aug 9 2024
    Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss. Find full details here: https://doi.org/10.1002/jmd2.12427
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    7 m
Ciencia
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