JIMD Podcasts

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.

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33 episodes
Avg 21 min
English

Episodes 33

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Monday · 3 min
Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
One newborn screen. Two very different diagnoses.…
September 22 · 32 min
The Clinical Chameleons: Rethinking Remethylation Disorders
Remethylation disorders are clinical chameleons, …
September 17 · 5 min
Metabolic Mysteries: Progressive neurological decline, equivocal biomarkers, negative genetics!
A young girl develops progressive neurological sy…
September 14 · 6 min
Metabolic Mysteries: Ataxia, tremor and a normal vitamin B12
A 7-year-old boy presents following a suspected s…
September 8 · 22 min
Beyond Metabolic Control: Immune Dysregulation in Organic Acidemias
Cytopenias and infections are familiar complicati…
September 3 · 4 min
Shortcast: Pregnancy in LPI Complicated by Immune Dysregulation and Severe Thrombocytopenia
In this JIMD Reports Shortcast, Dr Eamon McCarron…
August 31 · 4 min
Shortcast: JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy
Could some mitochondrial disorders also be treata…
August 28 · 22 min
Helsinki: Day 4 - New friends, fond farewells, and Dublin calling
In the fifth, and thankfully final, update from H…
August 27 · 24 min
Helsinki: Day 3 - Don't know much about history (or geography and physics)
James and Silvia return for the 4th episode of th…
August 26 · 13 min
Helsinki: Day 2 - Long posters, short sessions, and restroom rendezvous
Silvia and James reflect on the first full day of…
August 25 · 18 min
Helsinki: Day 1 - Geeks, mentors and Azerbaijan
Hosts Silvia Radenkovic and James Nurse return to…
August 24 · 22 min
Helsinki: Day 0 - Saunas, sequencing and special sessions
The "podcast no one asked for" is back as hosts S…
August 18 · 40 min
The Adult PKU brain: from phenylalanine exposure to brain aging
Raphaela Muri and Roman Trepp join the JIMD Podca…
August 11 · 49 min
Research Round-Up: Sterols and Bile Acids
Research Round-Up: Sterols and Bile Acids by Jour…
August 4 · 45 min
Beyond Metabolic Control: Optimising Nutrition in Inborn Errors of Protein Metabolism
Júlio César Rocha, Anne Daly and Anita MacDonald …
July 28 · 2 min
Shortcast: Adult Refsum: Reducing Circulating Phytanic Acid Levels With Dietary Interventions
Sarah Firman explores how dietary management can …
July 21 · 38 min
Hidden Disease or Uncertain Risk? Rethinking IMD Diagnosis and Newborn Screening
Are inherited metabolic disorders more common, an…
July 14 · 1 hr 5 min
IMD Research Round-Up: Phenylketonuria
Phenylketonuria (PKU) was one of the first inheri…
July 7 · 20 min
Rapamycin and Pharmacogenomics in Niemann-Pick C
A study of rapamycin in Niemann-Pick C raises an …
June 30 · 5 min
Shortcast: Clinical Outcomes in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease
In this JIMD Shortcast, first author Arty Selvana…

Showing 1–20 of 33 episodes