Ahead of #RareDiseaseDay (28 Feb), an important reminder: rare diseases can have rare presentations.

Lynch et al. report adult-diagnosed GSD1b in siblings with prolonged fasting tolerance and minimal neutropenia

doi.org/10.1002/jmd2...
#RareDisease #GSD1b #IMD #GenomicMedicine

Everyone's talking about empagliflozin Maria Veiga-da-Cunha, Claudia Soler-Alfonso and Sarah Grünert join the podcast to talk about Empagliflozin, a repurposed drug with impressive efficacy in GSD 1b and G6PC3 deficiency. Successful use o

Everyone's talking about Empagliflozin, or what happens when re-purposing goes right. This podcast is from a couple of years ago but remains very relevant.

soundcloud.com/user-1090061...

#GSD #GSD1b #raredisease #repurposing