N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment
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The conversion of ammonia into urea by the human liver requires the coordinated function of the 6 enzymes and 2 transporters of the urea cycle. The initial and rate-limiting enzyme of the urea cycle, carbamylphosphate synthetase 1 (CPS1), requires an allosteri... ...
