The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
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DOI: 10.1186/s13023-024-03167-0
Abstract: Background The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in 2,000,000 live births. Hyperammonemic crises can be avoided in individuals… read more here.
Keywords: nags deficiency; carbamylglutamate; nutrition management; deficiency ... See more keywords