JIMD Podcasts Podcast Por Journal of Inherited Metabolic Disease arte de portada

JIMD Podcasts

JIMD Podcasts

De: Journal of Inherited Metabolic Disease
Escúchala gratis

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 Ciencia
Episodios
  • Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency

    Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
    Apr 7 2026
    Sophie Manoy discusses antenatal and neonatal management in carbonic anhydrase VA deficiency, based on a case series of two affected siblings managed from birth without decompensation. Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency Sophie Manoy, et al https://doi.org/10.1002/jmd2.70076
    Más Menos
    4 m
  • D-Glyceric aciduria: is GLYCTK really mitochondrial?

    D-Glyceric aciduria: is GLYCTK really mitochondrial?
    Mar 31 2026
    A rare disorder, a surprisingly basic biological question, and a paper that revisits what GLYCTK actually does. Jörn Oliver Sass joins the podcast to discuss D-glyceric aciduria, mitochondrial localization of D-glycerate kinase, and why getting the fundamentals right still matters. Human D-Glycerate Kinase, Encoded by GLYCTK and Deficient in D-Glyceric Aciduria, Is a Mitochondrial Enzyme Anne Korwitz-Reichelt, et al https://doi.org/10.1002/jimd.70119
    Más Menos
    17 m
  • Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features

    Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features
    Mar 24 2026
    Dr Rory J. Tinker discusses diagnostic delay in mitochondrial disease, showing that most delays occur before clinical suspicion, despite canonical features being documented years earlier. The study highlights opportunities to shorten the diagnostic odyssey through earlier recognition and informatics approaches. Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features Rory J. Tinker, et al https://doi.org/10.1002/jmd2.70068
    Más Menos
    5 m
Todavía no hay opiniones