#JIMDPodcast
New #JIMDPodcast out now!
Sabine Fuchs and Eva Hoytema join us to explore the growing and complex world of aminoacyl-tRNA synthetase deficiencies, from diagnostic puzzles to multisystem phenotypes.

🎧 Listen wherever you get your podcasts
including Spotify: open.spotify.com/episode/4qpQ...
August 13, 2025 at 4:01 PM
🎧 New JIMD Podcast!
Dr Laura Adang joins us to unpack diagnostic delays in MLD—how it presents, why it's missed, and why screening matters now more than ever.
Because we might just have a 'cure'.
🔗 open.spotify.com/episode/6mFJ...
or search for 'JIMD Podcasts'

#MLD #JIMDPodcast #IMD
July 22, 2025 at 8:13 AM
🎙️ New #JIMDPodcast
We’re talking future therapies in classic galactosemia—from big-picture thinking to... purple sweet potatoes? 🥔💜

Join Estela Rubio-Gozalbo, Kent Lai, Synneva Hagen-Lillevik & Bijina Balakrishnan

👉 open.spotify.com/episode/2YsN...
Or find us wherever you get your podcasts.
July 8, 2025 at 11:01 AM
🧠 New #MetabolicMysteries episode!

A child with seizures, 3 wrong diagnoses—including opsoclonus-myoclonus-ataxia. Can you crack the case?

👀 Dr Takle & Dr Sen investigate.

🎧 Spotify open.spotify.com/episode/0bLJ...

#JIMDPodcast #RareDisease #DiagnosticOdyssey
June 3, 2025 at 7:35 AM