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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42 episodes
weekly
Avg 20 min
English

Episodes 42

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Tuesday · 38 min
Beyond Enzyme Replacement: Gene Therapy for Gaucher Disease
Could a single gene therapy treatment replace lif…
November 5 · 5 min
Shortcast: Hydrotherapy in individuals with Mucopolysaccharidosis Type II (Hunter Syndrome)
Can hydrotherapy improve quality of life for peop…
November 2 · 6 min
Metabolic Mysteries: Developmental delay, progressive kyphosis and an unexpected blood film finding
An initial diagnosis offered some answers for a c…
October 27 · 24 min
Methionine synthase: Location matters
Where a reaction happens may matter as much as th…
October 22 · 6 min
Shortcast: Glut1-Deficiency Syndrome: New Insights From a Brazilian Cohort of Patients
Dr Lívia Ferreira Sobrinho and Dr Ida Schwartz sh…
October 19 · 4 min
Shortcast: Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency
How do you manage gestational diabetes in a condi…
October 13 · 48 min
Citrin deficiency: changing presentations, challenging assumptions
Citrin deficiency challenges familiar assumptions…
October 6 · 45 min
IMD Research Round-Up: HFI & fructose metabolism
Professor David Cassiman, Professor of Hepatology…
October 1 · 3 min
Shortcast: Characterization of Adult Patients With Neurometabolic Disorders
Dr Boel Ernerdahl presents her groups observation…
September 28 · 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…

Showing 1–20 of 42 episodes