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Year Number of Results
2009 1
2012 1
2014 1
2015 2
2019 1
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2021 3
2023 1
2024 0

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9 results

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Page 1
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Vockley J, Sondheimer N, Puurunen M, Diaz GA, Ginevic I, Grange DK, Harding C, Northrup H, Phillips JA 3rd, Searle S, Thomas JA, Zori R, Denney WS, Ernst SL, Humphreys K, McWhorter N, Kurtz C, Brennan AM. Vockley J, et al. Nat Metab. 2023 Oct;5(10):1685-1690. doi: 10.1038/s42255-023-00897-6. Epub 2023 Sep 28. Nat Metab. 2023. PMID: 37770764 Clinical Trial.
In a 14-day open-label dose-escalation study (Synpheny-1, NCT04534842 ), we test a primary endpoint of change from baseline in labeled Phe (D5-Phe AUC(0-24); D5-Phe area under the curve (AUC) over 24 hours after D5-Phe administration) in plasma after D5-Phe challenge in adult par …
In a 14-day open-label dose-escalation study (Synpheny-1, NCT04534842 ), we test a primary endpoint of change from baseline in labeled Phe ( …
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.
Qi Y, Patel G, Henshaw J, Gupta S, Olbertz J, Larimore K, Harding CO, Merilainen M, Zori R, Longo N, Burton BK, Li M, Gu Z, Zoog SJ, Weng HH, Schweighardt B. Qi Y, et al. Clin Transl Sci. 2021 Sep;14(5):1894-1905. doi: 10.1111/cts.13043. Epub 2021 May 31. Clin Transl Sci. 2021. PMID: 34057292 Free PMC article. Clinical Trial.
Pharmacokinetic, pharmacodynamic, and immunogenicity results from five open-label pegvaliase trials were assessed. Studies with induction/titration/maintenance (I/T/M) dosing regimens demonstrated pharmacokinetic stabilization and sustained efficacy associated with mainten …
Pharmacokinetic, pharmacodynamic, and immunogenicity results from five open-label pegvaliase trials were assessed. Studies with induction/ti …
Study of baseline radon levels in the context of a shale gas development.
Daraktchieva Z, Wasikiewicz JM, Howarth CB, Miller CA. Daraktchieva Z, et al. Sci Total Environ. 2021 Jan 20;753:141952. doi: 10.1016/j.scitotenv.2020.141952. Epub 2020 Aug 25. Sci Total Environ. 2021. PMID: 33207467
The monitoring of outdoor radon levels over the four and half years indicates a year-to-year variation in outdoor radon concentrations with levels fluctuating between 3 and 9 Bq m(-3). There was a very good agreement between long-term average radon concentrations measured …
The monitoring of outdoor radon levels over the four and half years indicates a year-to-year variation in outdoor radon concentrations with …
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. Baxter RM, et al. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10. J Clin Endocrinol Metab. 2015. PMID: 25383892 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. 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.
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.
Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA. Dagli AI, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1(0 1):S103-6. doi: 10.1007/s10545-009-1088-x. Epub 2009 Mar 30. J Inherit Metab Dis. 2009. PMID: 19322675 Free PMC article.
At 16 years of age, he developed a severe cardiomyopathy with a left ventricular mass index of 209 g/m(2). The cardiomyopathy remained stable on a protein intake of 20-25% of total energy. ...Over one year, his left ventricular mass index decreased from 159.7 g/m(2) …
At 16 years of age, he developed a severe cardiomyopathy with a left ventricular mass index of 209 g/m(2). The cardiomyopathy remaine …
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.