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Page 1
Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders.
Monteleone JP, Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Berry SA, Lemons C, Dickinson K, Coakley D, Lee B, Scharschmidt BF. Monteleone JP, et al. Among authors: lee b. J Clin Pharmacol. 2013 Jul;53(7):699-710. doi: 10.1002/jcph.92. Epub 2013 Jun 15. J Clin Pharmacol. 2013. PMID: 23775211 Free PMC article.
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL 2nd, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Mokhtarani M, et al. Among authors: lee b. Mol Genet Metab. 2012 Nov;107(3):308-14. doi: 10.1016/j.ymgme.2012.08.006. Epub 2012 Aug 18. Mol Genet Metab. 2012. PMID: 22958974 Free PMC article. Clinical Trial.
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL 2nd, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. Nagamani SC, et al. Mol Genet Metab. 2015 Sep-Oct;116(1-2):29-34. doi: 10.1016/j.ymgme.2015.08.002. Epub 2015 Aug 5. Mol Genet Metab. 2015. PMID: 26296711 Free PMC article. Clinical Trial.
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.
Mokhtarani M, Diaz GA, Rhead W, Berry SA, Lichter-Konecki U, Feigenbaum A, Schulze A, Longo N, Bartley J, Berquist W, Gallagher R, Smith W, McCandless SE, Harding C, Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS Jr, Dickinson K, Moors T, Norris C, Coakley D, Milikien DA, Nagamani SC, Lemons C, Lee B, Scharschmidt BF. Mokhtarani M, et al. Among authors: lee b. Mol Genet Metab. 2013 Dec;110(4):446-53. doi: 10.1016/j.ymgme.2013.09.017. Epub 2013 Oct 8. Mol Genet Metab. 2013. PMID: 24144944 Free PMC article.
Glutamine and hyperammonemic crises in patients with urea cycle disorders.
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. Lee B, et al. Mol Genet Metab. 2016 Jan;117(1):27-32. doi: 10.1016/j.ymgme.2015.11.005. Epub 2015 Nov 11. Mol Genet Metab. 2016. PMID: 26586473 Free PMC article. Clinical Trial.
Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.
Mokhtarani M, Diaz GA, Lichter-Konecki U, Berry SA, Bartley J, McCandless SE, Smith W, Harding C, Le Mons C, Coakley DF, Lee B, Scharschmidt BF. Mokhtarani M, et al. Among authors: lee b. Mol Genet Metab Rep. 2015 Sep 27;5:12-14. doi: 10.1016/j.ymgmr.2015.09.003. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649536 Free PMC article.
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD; Members of the UCDC,; Milosavljevic A, Lee BH, Elsea SH. Burrage LC, et al. Among authors: lee bh. Genet Med. 2019 Sep;21(9):1977-1986. doi: 10.1038/s41436-019-0442-0. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670878 Free PMC article.
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