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Moderate glutathione synthetase deficiency leads to hemolytic anemia and metabolic acidosis, whereas patients with a more severe deficiency also develop 5-oxoprolinuria, recurrent bacterial infections, and progressive dysfunction of the central nervous system, including mental retardation and motor functional disturbances

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doi: 10.1016/b978-0-12-152819-5.50019-1

Proteins 64, 643651