AIMC Topic: Aromatic-L-Amino-Acid Decarboxylases

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Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.

Journal of the American Medical Informatics Association : JAMIA Feb 16, 2024
OBJECTIVES: Electronic health record (EHR) data may facilitate the identification of rare diseases in patients, such as aromatic l-amino acid decarboxylase deficiency (AADCd), an autosomal recessive disease caused by pathogenic variants in the dopa d...
Humans Machine Learning Natural Language Processing Dopamine Rare Diseases Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases
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