Faizah Hashimy

Expert rules versus machine learning for lysosomal storage disorder identification: a comparative analysis using clinical data

Abstract Early diagnosis of rare lysosomal storage disorders, such as Gaucher disease (GD), acid sphingomyelinase deficiency (ASMD), and Saposin C deficiency, is critical but often delayed. Electronic health records (EHRs) provide opportunities for screening, but class imbalance...