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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.
Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, Rudd M, Palmer DJ, Ng P, Brunetti-Pierri N, Lipshutz GS. Khoja S, et al. Mol Genet Metab. 2018 Aug;124(4):243-253. doi: 10.1016/j.ymgme.2018.04.001. Epub 2018 Apr 12. Mol Genet Metab. 2018. PMID: 29801986 Free PMC article.
Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
Soria LR, Nitzahn M, De Angelis A, Khoja S, Attanasio S, Annunziata P, Palmer DJ, Ng P, Lipshutz GS, Brunetti-Pierri N. Soria LR, et al. Among authors: khoja s. J Inherit Metab Dis. 2019 Nov;42(6):1128-1135. doi: 10.1002/jimd.12070. Epub 2019 Mar 11. J Inherit Metab Dis. 2019. PMID: 30724386 Free PMC article.
Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities.
Khoja S, Lambert J, Nitzahn M, Eliav A, Zhang Y, Tamboline M, Le CT, Nasser E, Li Y, Patel P, Zhuravka I, Lueptow LM, Tkachyova I, Xu S, Nissim I, Schulze A, Lipshutz GS. Khoja S, et al. Mol Ther Methods Clin Dev. 2022 Mar 28;25:278-296. doi: 10.1016/j.omtm.2022.03.015. eCollection 2022 Jun 9. Mol Ther Methods Clin Dev. 2022. PMID: 35505663 Free PMC article.
Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency.
Khoja S, Liu XB, Truong B, Nitzahn M, Lambert J, Eliav A, Nasser E, Randolph E, Burke KE, White R, Zhu X, Martini PGV, Nissim I, Cederbaum SD, Lipshutz GS. Khoja S, et al. Mol Ther Nucleic Acids. 2022 Apr 27;28:859-874. doi: 10.1016/j.omtn.2022.04.012. eCollection 2022 Jun 14. Mol Ther Nucleic Acids. 2022. PMID: 35694211 Free PMC article.
124 results