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Results 1 - 1 of 1 for Glutathione synthetase deficiency with "5-oxoprolinuria"
  1. ... GSS gene have been identified in people with glutathione synthetase deficiency. Characteristic features of this condition include the abnormal ... Kinetic properties of missense mutations in patients with glutathione synthetase deficiency. Biochem J. 2000 Jul 1;349(Pt 1): ...