Manuel A. Viamonte1,2 ● Stephanie L. Filipp3 ● Zara Zaidi4,8 ● Matthew J. Gurka3 ● Barry J. Byrne4 ● Peter B. Kang 1,5,6,7
Received: 25 January 2021 / Revised: 1 April 2021 / Accepted: 20 April 2021
© The Author(s), under exclusive licence to The Japan Society of Human Genetics 2021

Newborn screening and therapies for Pompe disease (glycogen storage disease type II, acid maltase deficiency) will continue
to expand in the future. It is thus important to determine whether enzyme activity or type of pathogenic genetic variant in
GAA can best predict phenotypic severity, particularly the presence of infantile-onset Pompe disease (IOPD) versus late onset Pompe disease (LOPD).

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Phenotypic implications of pathogenic variant types in Pompe Disease