# Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria

> Research article (PLoS ONE, 2020) · cited 60× · AI/ML

**Wikidata**: [openalex:W3040385445](https://www.wikidata.org/wiki/openalex:W3040385445)  
**Source**: https://4ort.xyz/entity/detecting-rare-diseases-in-electronic-health-records-using-machine-learning-and-knowledge-engineering-case-study-of-acut