Article

Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations

2024-12-09

Abstract excerpt

<title>Abstract</title> <p>Background Acute Hepatic Porphyria is a group of four rare genetic but treatable diseases that often go undiagnosed due to its non-specific symptoms, under-recognition of the condition by clinicians, and the lack of access to specialists and appropriate testing. This case-control study investigates the phenotypic and demographic patterns in Acute Hepatic Porphyria (AHP) patients at a t...

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Literature Corpus work: b01405ad-6aa4-5310-981c-becef701bda1
DOI: 10.21203/rs.3.rs-4244361/v1

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