Detect Acute Porphyrias in Emergency Departments (DePorED) - a pilot study.
Eva Diehl-WieseneckerSabine BlaschkeNils WohmannIlja KubischThomas StauchMona MainertFranziska HelmSabine von WegererDavid PittrowJorge FrankUlrich StölzelRajan SomasundaramPublished in: Orphanet journal of rare diseases (2023)
To the best of our knowledge, we performed the first prospective screening project for APs in the ED. Although we detected no patient with AP in this study, we demonstrated the feasibility of a multicenter screening process for APs by building up a well-working infrastructure comprising laboratory testing as well as data management. This enables the set-up of a larger scale revised follow-up study with a central focus on structured education, thus, possibly acting as blueprint for other rare diseases.