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Global Variations in Diagnostic Methods and Epidemiological Estimates in Pompe Disease: Findings from a Scoping Review

Roberto Giugliani, Faryn Solomon,Hani Kushlaf, Erica Wright, Tmirah Haselkorn,Edmar Zanoteli,Benedikt Schoser

Orphanet Journal of Rare Diseases（2025）

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Key words
Pompe disease,Glycogen storage disease type II,Acid maltase deficiency,Prevalence,Epidemiology
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