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Page 1
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: vockley g. 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.
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Burton BK, Grange DK, Milanowski A, Vockley G, Feillet F, Crombez EA, Abadie V, Harding CO, Cederbaum S, Dobbelaere D, Smith A, Dorenbaum A. Burton BK, et al. Among authors: vockley g. J Inherit Metab Dis. 2007 Oct;30(5):700-7. doi: 10.1007/s10545-007-0605-z. Epub 2007 Sep 12. J Inherit Metab Dis. 2007. PMID: 17846916 Clinical Trial.
Pharmacokinetics of sapropterin in patients with phenylketonuria.
Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E; Sapropterin Research Group. Feillet F, et al. Clin Pharmacokinet. 2008;47(12):817-25. doi: 10.2165/0003088-200847120-00006. Clin Pharmacokinet. 2008. PMID: 19026037 Clinical Trial.
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, Mayerhofer EM, Tilstra D, Vedder T, Hunter JM, Tsang M, Gonzalez L, Vockley G, Tang S. Powis Z, et al. Among authors: vockley g. Genet Med. 2018 Nov;20(11):1468-1471. doi: 10.1038/gim.2018.11. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565416 Free article.
Host conditioning and rejection monitoring in hepatocyte transplantation in humans.
Soltys KA, Setoyama K, Tafaleng EN, Soto Gutiérrez A, Fong J, Fukumitsu K, Nishikawa T, Nagaya M, Sada R, Haberman K, Gramignoli R, Dorko K, Tahan V, Dreyzin A, Baskin K, Crowley JJ, Quader MA, Deutsch M, Ashokkumar C, Shneider BL, Squires RH, Ranganathan S, Reyes-Mugica M, Dobrowolski SF, Mazariegos G, Elango R, Stolz DB, Strom SC, Vockley G, Roy-Chowdhury J, Cascalho M, Guha C, Sindhi R, Platt JL, Fox IJ. Soltys KA, et al. Among authors: vockley g. J Hepatol. 2017 May;66(5):987-1000. doi: 10.1016/j.jhep.2016.12.017. Epub 2016 Dec 24. J Hepatol. 2017. PMID: 28027971 Free PMC article.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: vockley g. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.
The Role of ARF6 in Biliary Atresia.
Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. Ningappa M, et al. Among authors: vockley g. PLoS One. 2015 Sep 17;10(9):e0138381. doi: 10.1371/journal.pone.0138381. eCollection 2015. PLoS One. 2015. PMID: 26379158 Free PMC article.
Methylome repatterning in a mouse model of Maternal PKU Syndrome.
Dobrowolski SF, Lyons-Weiler J, Biery A, Spridik K, Vockley G, Kranik E, Skvorak K, Sultana T. Dobrowolski SF, et al. Among authors: vockley g. Mol Genet Metab. 2014 Nov;113(3):194-9. doi: 10.1016/j.ymgme.2014.08.006. Epub 2014 Aug 23. Mol Genet Metab. 2014. PMID: 25218179
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
Talkowski ME, McClain L, Allen T, Bradford LD, Calkins M, Edwards N, Georgieva L, Go R, Gur R, Gur R, Kirov G, Chowdari K, Kwentus J, Lyons P, Mansour H, McEvoy J, O'Donovan MC, O'Jile J, Owen MJ, Santos A, Savage R, Toncheva D, Vockley G, Wood J, Devlin B, Nimgaonkar VL. Talkowski ME, et al. Among authors: vockley g. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):560-9. doi: 10.1002/ajmg.b.30862. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18937293 Free PMC article.
14 results