@jimd-editors.bsky.socialNew Shortcast
What does inherited neurometabolic disease look like in adulthood?
Boel Ernerdahl discusses 59 adults with 32 different disorders — revealing remarkably diverse treatment, functional & social needs.
🎧 Listen here: open.spotify.com/episode/6Lfq...
#JIMDPodcast #RareDisease
@jimd-editors.bsky.social🎧 New Shortcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.