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 8 de 13

The complex machinery of cobalamin 03/03/2023
Shortcast: MOGS-CDG: Quantitative analysis of a diagnostic biomarker & phenotype of 6 new cases 28/02/2023
How guidelines drive research and research influences guidelines 17/02/2023
Shortcast: Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency 10/02/2023
Shortcast: First decade anniversary of the United Kingdom National Alkaptonuria Centre 07/02/2023
Cellular Insights and Computational Modelling In MMA 03/02/2023
Novel therapy in a propionic acidemia mouse model 20/01/2023
Shortcast: Compound heterozygous variants in 2 sialyltransferase ST3GAL5 motifs cause GM3SD 17/01/2023
Shortcast: 3-Methylglutaconyl-CoA hydratase deficiency: Ascertainment bias vs biochemical diagnosis 12/01/2023
Priority Setting Partnership in Mitochondrial Disease 06/01/2023
Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities and correction with pyridoxine & Folinic acid 28/12/2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: 3rd revision 23/12/2022
Diagnostics, EXPLORE B and POWER in Porphyria 09/12/2022
Shortcast: Isolated neurological presentations of mevalonate kinase deficiency 29/11/2022
Novel CSF biomarkers in GLUT1 deficiency syndrome 25/11/2022
Shortcast: Management of pregnancy in a patient with LCHADD 21/11/2022
Shortcast: Infantile-onset Pompe disease with neutropenia 14/11/2022
Sex Specific Screening in X-linked Adrenoleucodystrophy 11/11/2022
Shortcast: Direct replacement of oral benzoate with glycerol phenylbutyrate in children with UCD 08/11/2022
Everyone's talking about empagliflozin 28/10/2022
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