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Items: 2

1.
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
Suhail Khoja, Matt Nitzahn, Kip Hermann, Brian Truong, Roberta Borzone, Brandon Willis, Mitchell Rudd, Donna J. Palmer, Philip Ng, Nicola Brunetti-Pierri, Gerald S. Lipshutz
Mol Genet Metab. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Mol Genet Metab. 2018 Aug; 124(4): 243–253. Published online 2018 Apr 12. doi: 10.1016/j.ymgme.2018.04.001
PMCID:
PMC6076338
AbstractArticlePDF–817K
2.
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.
R Hoshide, T Matsuura, Y Haraguchi, F Endo, M Yoshinaga, I Matsuda
J Clin Invest. 1993 May; 91(5): 1884–1887. doi: 10.1172/JCI116405
PMCID:
PMC288181
SummaryPage BrowsePDF–890K

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