Conditional Disruption of Hepatic Carbamoyl Phosphate Synthetase 1 in Mice Results in Hyperammonemia without Orotic Aciduria and Can be Corrected by Liver-Directed Gene Therapy

Carbamoyl phosphate synthetase 1 (CPS1) is a urea cycle enzyme that forms carbamoyl phosphate from bicarbonate, ammonia and ATP. Bi-allelic mutations of the CPS1 gene result in a urea cycle disorder presenting with hyperammonemia, often with reduced citrulline, and without orotic aciduria. CPS1 defi...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab
Asıl Yazarlar: Khoja, Suhail, Nitzahn, Matt, Hermann, Kip, Truong, Brian, Borzone, Roberta, Willis, Brandon, Rudd, Mitchell, Palmer, Donna J., Ng, Philip, Brunetti-Pierri, Nicola, Lipshutz, Gerald S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6076338/
https://ncbi.nlm.nih.gov/pubmed/29801986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.04.001
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