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Glutathione synthetase deficiency has been incriminated as the cause of chronic hemolytic anemia alone (due to isolated RBC enzyme deficiency) and as the cause of a generalized syndrome (due to enzyme deficiency in many tissues) characterized by mild hemolytic disease, severe metabolic acidosis, and mental deterioration

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The team's experience has shown that with proper training, most patients can confidently manage their B12 supplementation at home

Further studies will examine differentiation-specific differences in the metabolic pathways that directly impact the clearance and/or shunting of NA into the NAD + salvage pathway

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