Article

Unmet Needs in Acute Hepatic Porphyria Diagnosis: A Comparative Big Data Analysis of an AI-based Human-in-the-Loop Screening Versus Standard of Care

2025-03-30

Abstract excerpt

<h4>Summary</h4> <h4>Background</h4> Acute Hepatic Porphyria (AHP) is a rare genetic disease characterized by unpredictable life-threatening attacks. There is no reliable biochemical screening test for patients outside of an attack and diagnosis is delayed on average by 15 (!) years. AI screening systems can assist in detecting AHP patients, but validating such systems is challenging, due to the limited number o...

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Literature Corpus work: e2ee6ec9-f038-55da-9e40-1aced285fd94
DOI: 10.1101/2025.03.28.25324843

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