JIMD Podcasts

JIMD Podcasts

Por: Journal of Inherited Metabolic Disease
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.
240 episodios disponibles

Latest episodes of the podcast JIMD Podcasts

Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials 02/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders 25/11/2025
Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis 18/11/2025
IMD Research Round-Up: Mitochondrial disease 11/11/2025
First in human gene editing: a new era for IMD therapies 04/11/2025
Metabolic mysteries: A 61-year-old with rhabdomyolysis and lifelong episodic fatigue 28/10/2025
Geriatric IMD: Diagnosing inherited metabolic disorders in older adults 21/10/2025
IMD Research Round-Up: Untargeted metabolomics 14/10/2025
Pharmacological chaperones in OTC deficiency 07/10/2025
Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland 30/09/2025
Penetrance, expressivity, and outcomes in classic galactosemia 23/09/2025
IMD Research Round-Up: Lysosomal Storage Disorders 16/09/2025
Adenosine Kinase 09/09/2025
Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari 02/09/2025
Metabolic mysteries: Incidental adrenal calcifications in a neonate 26/08/2025
The treatment landscape in CDG 19/08/2025
IMD Research Round-Up: Newborn Screening 12/08/2025
ARS1 Deficiencies 05/08/2025
Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD 29/07/2025
Diagnostic delay in Metachromatic Leukodystrophy 22/07/2025
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