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- [11] Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate European Journal of Pediatrics, 1998, 157 : 996 - 998
- [14] N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region SCIENTIFIC REPORTS, 2018, 8