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10.1093/nar/gkab951 Summary Keywords glutathione synthetase deficiency, 5-oxoprolinuria, glutathione synthetase gene variation, newborn, inherited metabolic disease, case report Citation Wu X, Jiao J, Xia Y, Yan X, Liu Z, Cao Y and Ma L (2023) Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation