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Page 1
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: moors tl. 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.
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. 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.
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL 2nd, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. Diaz GA, et al. Among authors: moors tl. Hepatology. 2013 Jun;57(6):2171-9. doi: 10.1002/hep.26058. Epub 2013 Jan 3. Hepatology. 2013. PMID: 22961727 Free PMC article. Clinical Trial.
Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.
Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, LeMons C, Mauney J, Dickinson K, Coakley DF, Moors T, Mokhtarani M, Scharschmidt BF, Lee B. Smith W, et al. J Pediatr. 2013 Jun;162(6):1228-34, 1234.e1. doi: 10.1016/j.jpeds.2012.11.084. Epub 2013 Jan 13. J Pediatr. 2013. PMID: 23324524 Free PMC article. Clinical Trial.