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
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2.3 GIO evaluation criteria To evaluate GIO development level, mechanical, histomorphometric and biochemical tests are used including dual-energy X-ray absorptiometry (DXA), micro-computed tomography (CT), histomorphometry and biochemistry analysis in serum [44,45,46,47,48]
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