Publications by authors named "Zahiriddin Rustamov"
Article Synopsis
- Pompe disease is a rare genetic disorder that causes glycogen buildup due to enzyme deficiency, primarily affecting the heart and muscles, with urgent treatment needed for infantile-onset forms to prevent mortality.
- The study aims to improve diagnosis of infantile-onset Pompe disease in the UAE by using electronic health records (EHRs) to create a rule-based screening approach that enables quick and precise identification of at-risk patients.
- The screening evaluated over 93,000 subjects, resulting in five identified true positives and one false negative, while integrating expert rules with a dashboard for better data visualization and screening efficiency, with a recommendation for future research to apply machine learning for enhanced detection.
