Abstract:Aim. To improve the efficiency of diagnosis of hereditary lysosomal storage diseases using an intelligent computerbased decision support system.Materials and methods. Descriptions of 35 clinical cases from the literature and depersonalized data of 52 patients from electronic health records were used as material for clinical testing of the computer diagnostic system. Knowledge engineering techniques have been used to extract, structure, and formalize knowledge from texts and experts. Literary sources included o… Show more
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