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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 38134953
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...
Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Dopamine Humans Machine Learning Natural Language Processing Rare Diseases
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