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Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.

Yeo M, Rehsi P, Dorman M, Grunewald S, Baruteau J, Chakrapani A, Footitt E, Prunty H, McSweeney M. Yeo M, et al. JIMD Rep. 2022 Feb 2;63(2):137-145. doi: 10.1002/jmd2.12274. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281661 Free PMC article.

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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group. Posset R, et al. Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13. Ann Neurol. 2019. PMID: 31018246 Free PMC article.

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Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.

Longo N, Diaz GA, Lichter-Konecki U, Schulze A, Inbar-Feigenberg M, Conway RL, Bannick AA, McCandless SE, Zori R, Hainline B, Ah Mew N, Canavan C, Vescio T, Kok T, Porter MH, Berry SA. Longo N, et al. Mol Genet Metab. 2021 Jan;132(1):19-26. doi: 10.1016/j.ymgme.2020.12.002. Epub 2020 Dec 23. Mol Genet Metab. 2021. PMID: 33388234 Free PMC article.

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Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.

Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N. Berry SA, et al. Mol Genet Metab. 2018 Nov;125(3):251-257. doi: 10.1016/j.ymgme.2018.09.001. Epub 2018 Sep 4. Mol Genet Metab. 2018. PMID: 30217721 Free article.

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Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria.

Ashley SN, Nordin JML, Buza EL, Greig JA, Wilson JM. Ashley SN, et al. Mol Genet Metab. 2018 Nov;125(3):241-250. doi: 10.1016/j.ymgme.2018.08.013. Epub 2018 Aug 28. Mol Genet Metab. 2018. PMID: 30253962

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Single-cell RNA transcriptome landscape of hepatocytes and non-parenchymal cells in healthy and NAFLD mouse liver.

Su Q, Kim SY, Adewale F, Zhou Y, Aldler C, Ni M, Wei Y, Burczynski ME, Atwal GS, Sleeman MW, Murphy AJ, Xin Y, Cheng X. Su Q, et al. iScience. 2021 Oct 6;24(11):103233. doi: 10.1016/j.isci.2021.103233. eCollection 2021 Nov 19. iScience. 2021. PMID: 34755088 Free PMC article.

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Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL 2nd, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. Diaz GA, et al. Mol Genet Metab. 2019 Aug;127(4):336-345. doi: 10.1016/j.ymgme.2019.07.004. Epub 2019 Jul 10. Mol Genet Metab. 2019. PMID: 31326288 Free article.

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Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model.

Mao X, Chen H, Lin AZ, Kim S, Burczynski ME, Na E, Halasz G, Sleeman MW, Murphy AJ, Okamoto H, Cheng X. Mao X, et al. J Inherit Metab Dis. 2022 May;45(3):470-480. doi: 10.1002/jimd.12474. Epub 2022 Feb 4. J Inherit Metab Dis. 2022. PMID: 34988999

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The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study.

Yeowell G, Burns DS, Fatoye F. Yeowell G, et al. J Patient Rep Outcomes. 2021 Oct 25;5(1):110. doi: 10.1186/s41687-021-00387-x. J Patient Rep Outcomes. 2021. PMID: 34694515 Free PMC article.

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