Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.

Molecular genetics and metabolism(2023)

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摘要
This study highlights the range and frequency of clinical outcomes experienced by patients with PA and demonstrates the clinical burden of MDEs.
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关键词
Augmented curation model,Electronic health records,Metabolic decompensation events,Natural language processing,Propionic acidemia,Real-world data
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