Article

Early Detection of Erythropoietic Protoporphyria Using Sequential Machine Learning on Longitudinal Electronic Health Records

2026-08-17

Abstract excerpt

<h4>Objective: </h4> Erythropoietic protoporphyria (EPP) is a rare photodermatosis marked by multi-year diagnostic delays. We developed and externally validated machine learning models to identify patients with EPP earlier from longitudinal electronic health record (EHR) data and estimate undiagnosed disease burden. <h4>Materials and Methods:</h4> In a retrospective case-control study at two San Francisco health s...

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Literature Corpus work: e803e32f-e463-5151-9261-14b204b3c444
DOI: 10.64898/2026.08.15.26360514

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