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Results 1 - 2 of 2 for Glutathione synthetase deficiency with "5-oxoprolinuria"
  1. Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells ...
  2. ... 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): ...