Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.

Osama Yousef MuthaffarNoura W AlazharyAnas S AlyazidiMohammed A AlsubaieSarah Y BahowarthNour B OdehAhmed K Bamaga

Published in: PloS one (2024)

The results suggest that ultra-rare diseases must be viewed as a distinct category from rare diseases with potential demographic and clinical hallmarks. Additional objective and descriptive criteria to detect such cases are needed.

Keyphrases

saudi arabia
high resolution
electronic health record
big data
machine learning
risk assessment
mass spectrometry
human health