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References from Generation and characterization of a human iPSC line (XACHi022-A) derived from an asymptomatic carrier of the GAA c.2051C > A (p.P684Q) variant. Local targets link to admitted publications; unresolved targets remain external evidence.
Pompe disease
2025 · External reference
Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease
10.1038/s41467-024-52143-6 · 2024 · External reference