Genetic & Genomic MedicineJIMD ReportsPeer-reviewed
Unifying the communities of early-onset glycogen storage disease type IV and adult polyglucosan body disease through a genetic prevalence study of GBE1-related disease
Rebecca L. Koch, Hasan Orhan Akman, Erin E. Chown…·Samantha M. Baxter
This paper estimates the global prevalence of GSD IV and APBD by analyzing GBE1 variants across nine genetic groups, finding 1 in 235,784 individuals are affected.
DOI 10.1002/jmd2.70080