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Asparagine synthase deficiency
- ... 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; ...
- ... 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 ( ...