Naito C, Kosar K, Kishimoto E, Pena L, Huang Y, Hao K, Bernieh A, Kasten J, Villa C, Kishnani P, et al. Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV. Mol Genet Metab Rep. 2024;39:101069.