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...
It seems everyone is talking about autophagy but what is it and what happens when it goes wrong? Hormos Salimi Dafsari, Carlo Dionisi-Vici, and Heinz Jungbluth join the podcast to answer these questions, discuss their experience across 3 (or 2.5) generations of clinical practice and why you never see an obese 100-year-old.
An update on autophagy disorders
Hormos Salimi Dafsari, et al
https://doi.org/10.1002/jimd.12798
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49:08
Models in Leigh Syndrome
Marie-Thérèse Henke, Alessandro Prigione, and Markus Schuelke get 2025 off to an informative start discussing why so many models exist for Leigh Syndrome, why we need them and how insights from disease models have led to Sildenafil being used in some patients.
Disease models of Leigh syndrome: From yeast to organoids
Marie-Thérèse Henke, Alessandro Prigione, Markus Schuelke
https://doi.org/10.1002/jimd.12804
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41:32
KAMPER: Kuvan (BH4) in phenylketonuria
Dr François Feillet returns to the podcast to discuss the final results of the KAMPER study, evaluating the long-term safety of sapropterin in phenylketonuria (phenylalanine hydroxylase deficiency).
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study
François Feillet, et al
https://doi.org/10.1002/jimd.12796
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25:38
Dietary management in GSD type 3a
Dr Sema Kalkan Uçar joins the podcast to discuss the merits of a high protein, high fat diet for the management of patients with Glycogen Storage Disease type 3a.
Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance
Sema Kalkan Uçar, et al
https://doi.org/10.1002/jimd.12741
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19:08
Footprints of IMD: Psychiatric presentations... with Gabriella Horvath
Dr Gabriella Horvath returns for her second visit to the podcast, joining Eva Morava to discuss psychiatric presentations of Inherited Metabolic Disease.
Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.02.007
Find IMDs associated with psychiatric presentations at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf
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.
Ireland