Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS JIMD Podcasts 09/12/2025 7 min Listen "Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS" Reproducir Descargar episodio Ver en sitio original Episode Synopsis Read the article: https://doi.org/10.1002/ajmg.a.64275 More 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 Ver todos los episodios Share Facebook Twitter LinkedIn