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

C Naito(Cincinnati Children's Hospital Medical Center), Akihiro Asai(University of Cincinnati Medical Center)

Molecular Genetics and Metabolism Reports

March 14, 2024

10.1016/j.ymgmr.2024.101069

Cited by 2

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