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[3] In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, increased rate of haemolysis, and defective function of the central nervous system
10.1016/B978-0-12-385095-9.00002-6 263 YamakawaS.MatsubayashiY.SakagamiY.KamadaH.SatohS
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