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Results 1 - 2 of 2 for Asparagine synthase deficiency
  1. ... of this condition. More About This Health Condition aspartate ammonia ligase ... Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. JIMD Rep. 2015; ...
  2. ... 10 mutations that cause carbamoyl phosphate synthetase I deficiency have been identified in the CPS1 gene. A ... signs and symptoms of carbamoyl phosphate synthetase I deficiency. More About This Health Condition One common alteration ( ...