Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report

Affiliations

• ¹ Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.
• ² Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan. Electronic address: hitaka.daisuke.gn@un.tsukuba.ac.jp.
• ³ Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan; Department of Child Health, Institute of Medicine, University of Tsukuba, Ibaraki, Japan.
• ⁴ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
• ⁵ Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan; Department of Child Health, Institute of Medicine, University of Tsukuba, Ibaraki, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
• ⁶ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.