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.
244 episodios disponibles

Latest episodes of the podcast JIMD Podcasts

Mostrando página 3 de 13

Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) 07/04/2025
Citrulline: beyond the urea cycle 28/03/2025
Metabolic mysteries: Hypoglycemia? Don't forget the urine 21/03/2025
Metabolic mysteries: New weakness, poor balance and paresthesia at 55 years of age 20/03/2025
Transition & executive function in MSUD 14/03/2025
Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing 19/02/2025
CBS Deficiency in the E-HOD Registry 17/02/2025
The Treatabolome: Don't miss the chance to treat! 28/01/2025
Velmanase alfa for alpha-mannosidosis 28/01/2025
An update on autophagy disorders 02/01/2025
Models in Leigh Syndrome 27/12/2024
KAMPER: Kuvan (BH4) in phenylketonuria 20/12/2024
Dietary management in GSD type 3a 05/12/2024
Footprints of IMD: Psychiatric presentations... with Gabriella Horvath 02/12/2024
Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS 29/11/2024
RNA based therapies in Urea Cycle Disorders 21/11/2024
Brain changes in infantile Pompe disease 05/11/2024
Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency 01/11/2024
Gene therapy for mitochondrial disorders 25/10/2024
Adult outcomes in classic galactosemia 11/10/2024
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