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Proposed diagnostic algorithm for pediatric patients without a family history of Gaucher disease

(Source: Weinreb NJ, Goker-Alpan O, Kishnani PS, et al. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab 2022;136[1]:4-21. Adapted from: Kishnani PS, Al-Hertani W, Balwani M, et al. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: results from a Delphi consensus. Mol Genet Metab. 2022;135[2]:154-62. Abbreviations: GCase, glucocerebrosidase; GD, Gaucher disease. Creative Commons Attribution [CC BY] License,