Two novel GAA missense variants and a known VUS in pompe disease: Functional characterization and pharmacological chaperone therapy.

Authors

Yang Xia, Yue Song, Ziyue Peng, Yuhuan Meng, Shihui Yu, Xue Zhang

Published in

Genes & diseases. Volume 14. Issue 2. Pages 102191. Epub Apr 17, 2026.

PMID:
42831205
Bibliographic data and abstract were imported from PubMed on 05 Oct 2026.

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