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Description

Moderate glutathione synthetase deficiency Patients with the moderate variant usually present in the neonatal period with severe and chronic metabolic acidosis, 5-oxoprolinuria, and mild/moderate hemolytic anemia

Diagnostic methods The level of 5-oxoproline in urine can be determined by gas chromatography-mass spectrometry [26]

Regulation by glutathione of drug transport in multidrug-resistant human lung tumour cell lines overexpressing multidrug resistance-associated protein