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JIMD Podcasts
by Journal of Inherited Metabolic Disease
Today: #76 in Science, Brazil on our combined chart.
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Ranking history · Japan
No ranking history for this show in Japan over the last 7 days.
Latest episodes
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Shortcast: Characterization of Adult Patients With Neurometabolic Disorders
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Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
September 28, 2026 · 4 minOne newborn screen. Two very different diagnoses. And treatments that pull in opposite directions. In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn with markedly elevated citrulline, where…
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The Clinical Chameleons: Rethinking Remethylation Disorders
September 22, 2026 · 32 minRemethylation disorders are clinical chameleons, presenting with neurological, psychiatric, ophthalmological, renal or multisystem disease. Professor Martina Huemer joins the JIMD Podcast to discuss the revised international guidelines…
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Metabolic Mysteries: Progressive neurological decline, equivocal biomarkers, negative genetics!
September 17, 2026 · 6 minA young girl develops progressive neurological symptoms and a biomarker profile pointing strongly towards a particular metabolic disorder. There’s just one problem: the genetic testing is negative. In this Metabolic Mystery, Dr Ayca Burcu…
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Metabolic Mysteries: Ataxia, tremor and a normal vitamin B12
September 14, 2026 · 6 minA 7-year-old boy presents following a suspected seizure, with a history of progressive ataxia and tremor. An MRI offers an important clue but a seemingly reassuring blood result complicates the picture. In this Metabolic Mystery, Dr…
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Beyond Metabolic Control: Immune Dysregulation in Organic Acidemias
September 8, 2026 · 22 minCytopenias and infections are familiar complications of branched-chain organic acidemias, but are they simply consequences of metabolic decompensation? Abdul Shakerdi and Jerry Vockley join the JIMD Podcast to explore evidence that…
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Shortcast: Pregnancy in LPI Complicated by Immune Dysregulation and Severe Thrombocytopenia
September 3, 2026 · 5 minIn this JIMD Reports Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia. Hear how multidisciplinary management…
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Shortcast: JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy
August 31, 2026 · 5 minCould some mitochondrial disorders also be treatable interferonopathies? In a new JIMD Reports Shortcast, Dan Brooks and Fernando Scaglia look at a fascinating case of PNPT1-related mitochondrial disease in which mitochondrial dysfunction…
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Helsinki: Day 4 - New friends, fond farewells, and Dublin calling
August 28, 2026 · 23 minIn the fifth, and thankfully final, update from Helsinki, James and Silvia return to provide their inimitable take on the sessions from Thursday with a look ahead to Friday’s sessions. They find themselves looking well beyond the last day…
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Helsinki: Day 3 - Don't know much about history (or geography and physics)
August 27, 2026 · 24 minJames and Silvia return for the 4th episode of their increasingly confusing daily podcast from the SSIEM 2026 annual meeting in Helsinki. The flood gates have finally opened and we hear from multiple guest about their posters and…
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Helsinki: Day 2 - Long posters, short sessions, and restroom rendezvous
August 26, 2026 · 14 minSilvia and James reflect on the first full day of the SSIEM 2026 meeting and look ahead to day 2. They check in with Rodrigo to find out why he can't be Helsinki and welcome a number of contributors who encourage you to come and see their…
About the show
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.