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2 |
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32670798 | Therapeutic effect of N-carbamylglutamate in CPS1 deficiency. | 2020 Sep |
4 |
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31392111 | N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects. | 2019 Jul |
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30337552 | N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. | 2018 Oct 18 |
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28007335 | Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes. | 2017 Mar |
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27570737 | N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. | 2016 Sep |
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23649895 | Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool. | 2013 Aug |
2 |