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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

10.1016/s0022-2836(05)80154-8 8 BjrnestedtR.TardioliS.MannervikB

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Investigation of general vascular barrier systems clearly are of interest in FRDA as it relates to CNS pathology relative to the cytoskeletal abnormalities first identified in patient fibroblasts

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