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 10 de 13

Shortcast: Clinical spectrum of early onset “Mediterranean” MNGIE 13/07/2022
Gls2 knockdown - a different approach for Urea Cycle Disorders? 01/07/2022
Shortcast: Glycogen storage disease type IIIa in pregnant women 21/06/2022
Lost in translation — Challenges in drug development for rare disease 17/06/2022
Machine learning in newborn screening 03/06/2022
Barth Syndrome (part 2): Screening, modelling and more 20/05/2022
Barth Syndrome (part 1): Disease overview and future treatments 20/05/2022
CDG or not CDG 16/05/2022
Shortcast: High penetrance and recurrent attacks in a family with hereditary coproporphyria 10/05/2022
Dentistry in Inherited Metabolic Disease 06/05/2022
Shortcast: Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort 02/05/2022
Shortcast: A serendipitous journey to a promoter variant in OTC 28/04/2022
NGLY1 deficiency & epilepsy 22/04/2022
Molybdenum Cofactor Deficiency 08/04/2022
Shortcast: Chondroitin sulfate disaccharide as a biomarker for MPS IVA 05/04/2022
Shortcast: A mild phenotype of mitochondrial trifunctional protein deficiency 01/04/2022
Treatment In Alkaptonuria 25/03/2022
Shortcast: Acute and early developmental outcomes of children with Duarte galactosemia 15/03/2022
Arginase Deficiency 11/03/2022
Shortcast: Two siblings with galactose mutarotase deficiency: Clinical differences 04/03/2022
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