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Timeline of presenting signs and symptoms of Gaucher disease throughout childhood

(a) Dysphagia, apnea, difficulty with secretions. (b) Progressive. (c) Avascular necrosis, osteopenia, pathologic fractures. Presenting signs and symptoms of Gaucher disease are summarized Gary and colleagues; some would only be expected for specific Gaucher disease subtypes (eg, overt neurologic symptoms only expected in GD2 and/or GD3) (Gary SE, Ryan E, Steward AM, Sidransky E. Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab 2018;13[2]:107-18.).

Abbreviations: GD, Gaucher disease; LAL, lysosomal acid lipase; LSD, lysosomal storage 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. Creative Commons Attribution [CC BY] License,