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...
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...
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
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
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.
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.
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
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