Congenital hyperammonemia, type I AND humans[mesh] AND review[publication type] - Search Results

Year	Number of Results
2001	1
2002	1
2004	1
2005	2
2008	1
2010	1
2015	1
2017	2
2018	1
2020	1
2022	1
2023	2
2024	0

1

Citrulline in health and disease. Review on human studies.

Papadia C, Osowska S, Cynober L, Forbes A. Papadia C, et al. Clin Nutr. 2018 Dec;37(6 Pt A):1823-1828. doi: 10.1016/j.clnu.2017.10.009. Epub 2017 Oct 16. Clin Nutr. 2018. PMID: 29107336 Review.

2

CPS1: Looking at an ancient enzyme in a modern light.

Nitzahn M, Lipshutz GS. Nitzahn M, et al. Mol Genet Metab. 2020 Nov;131(3):289-298. doi: 10.1016/j.ymgme.2020.10.003. Epub 2020 Oct 10. Mol Genet Metab. 2020. PMID: 33317798 Free PMC article. Review.

3

Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases.

Zhang L, Zou Y, Lu Y, Li Z, Gao F. Zhang L, et al. Bioorg Chem. 2023 Jan;130:106253. doi: 10.1016/j.bioorg.2022.106253. Epub 2022 Nov 5. Bioorg Chem. 2023. PMID: 36356370 Review.

4

Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.

Wang S, Chen J, Zhu X, Huang T, Xu H, Ying G, Qian H, Lin W, Tung Y, Khan KU, Guo H, Zheng G, Lu H, Zhang G. Wang S, et al. BMC Med Genomics. 2023 Jun 26;16(1):145. doi: 10.1186/s12920-023-01569-w. BMC Med Genomics. 2023. PMID: 37365635 Free PMC article. Review.

5

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.

Diez-Fernandez C, Häberle J. Diez-Fernandez C, et al. Expert Opin Ther Targets. 2017 Apr;21(4):391-399. doi: 10.1080/14728222.2017.1294685. Epub 2017 Feb 20. Expert Opin Ther Targets. 2017. PMID: 28281899 Review.

6

Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.

Martínez AI, Pérez-Arellano I, Pekkala S, Barcelona B, Cervera J. Martínez AI, et al. Mol Genet Metab. 2010 Dec;101(4):311-23. doi: 10.1016/j.ymgme.2010.08.002. Epub 2010 Aug 6. Mol Genet Metab. 2010. PMID: 20800523 Review.

7

Neurologic damage and neurocognitive dysfunction in urea cycle disorders.

Enns GM. Enns GM. Semin Pediatr Neurol. 2008 Sep;15(3):132-9. doi: 10.1016/j.spen.2008.05.007. Semin Pediatr Neurol. 2008. PMID: 18708004 Review.

8

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Scaglia F, et al. J Nutr. 2004 Oct;134(10 Suppl):2775S-2782S; discussion 2796S-2797S. doi: 10.1093/jn/134.10.2775S. J Nutr. 2004. PMID: 15465784 Free article. Review.

9

Genetic counseling issues in urea cycle disorders.

Sniderman King L, Singh RH, Rhead WJ, Smith W, Lee B, Summar ML. Sniderman King L, et al. Crit Care Clin. 2005 Oct;21(4 Suppl):S37-44. doi: 10.1016/j.ccc.2005.08.001. Crit Care Clin. 2005. PMID: 16227114 Review.

10

Unmasked adult-onset urea cycle disorders in the critical care setting.

Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW. Summar ML, et al. Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8. doi: 10.1016/j.ccc.2005.05.002. Crit Care Clin. 2005. PMID: 16227111 Review.

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