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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 4.

Incidence of Pompe Disease in Different Populations

PopulationIncidenceReference
African American1:14,000 Hirschhorn & Reuser [2001]
Netherlands1:40,000 combined 1
1:138,000 infantile onset
1:57,000 adult onset
Ausems et al [1999], Poorthuis et al [1999]
US1:40,000 combined Martiniuk et al [1998]
South China/Taiwan1:50,000 Lin et al [1987]
European descent1:100,000 infantile onset
1:60,000 late onset
Martiniuk et al [1998]
Australia1:145,000 Meikle et al [1999]
Portugal1:600,000 Pinto et al [2004]
1.

Combined = all Pompe disease phenotypes

From: Pompe Disease

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