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A Constitutive Knockout of Murine Carbamoyl Phosphate Synthetase 1 Results in Death with Marked Hyperglutaminemia and Hyperammonemia
The enzyme carbamoyl phosphate synthetase 1 (CPS1; EC 6.3.4.16) forms carbamoyl phosphate from bicarbonate, ammonia, and ATP and is activated allosterically by N-acetylglutamate. The neonatal presentation of bi-allelic mutations of CPS1 results in hyperammonemia with reduced citrulline and is report...
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| Publicado no: | J Inherit Metab Dis |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6728231/ https://ncbi.nlm.nih.gov/pubmed/30835861 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12048 |
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