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Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment.
Hendriksz CJ, Muenzer J, Vanderver A, Davis JM, Burton BK, Mendelsohn NJ, Wang N, Pan L, Pano A, Barbier AJ. Hendriksz CJ, et al. Among authors: barbier aj. Mol Genet Metab Rep. 2015 Nov 9;5:103-106. doi: 10.1016/j.ymgmr.2015.11.001. eCollection 2015 Dec. Mol Genet Metab Rep. 2015. PMID: 28649553 Free PMC article.
Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.
Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, Waisbren SE, Mulberg AE. Shapiro E, et al. Among authors: barbier aj. Mol Genet Metab. 2016 Jun;118(2):65-9. doi: 10.1016/j.ymgme.2016.04.006. Epub 2016 Apr 14. Mol Genet Metab. 2016. PMID: 27132782 Free PMC article.
Patient Voice in Rare Disease Drug Development and Endpoints.
Deal LS, Goldsmith JC, Martin S, Barbier AJ, Roberds SL, Schubert DH. Deal LS, et al. Among authors: barbier aj. Ther Innov Regul Sci. 2017 Mar;51(2):257-263. doi: 10.1177/2168479016671559. Epub 2016 Nov 4. Ther Innov Regul Sci. 2017. PMID: 30231724
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.
Grace RF, Rose C, Layton DM, Galactéros F, Barcellini W, Morton DH, van Beers EJ, Yaish H, Ravindranath Y, Kuo KHM, Sheth S, Kwiatkowski JL, Barbier AJ, Bodie S, Silver B, Hua L, Kung C, Hawkins P, Jouvin MH, Bowden C, Glader B. Grace RF, et al. Among authors: barbier aj. N Engl J Med. 2019 Sep 5;381(10):933-944. doi: 10.1056/NEJMoa1902678. N Engl J Med. 2019. PMID: 31483964 Clinical Trial.
Phase 1 Single- and Multiple-Ascending-Dose Randomized Studies of the Safety, Pharmacokinetics, and Pharmacodynamics of AG-348, a First-in-Class Allosteric Activator of Pyruvate Kinase R, in Healthy Volunteers.
Yang H, Merica E, Chen Y, Cohen M, Goldwater R, Kosinski PA, Kung C, Yuan ZJ, Silverman L, Goldwasser M, Silver BA, Agresta S, Barbier AJ. Yang H, et al. Among authors: barbier aj. Clin Pharmacol Drug Dev. 2019 Feb;8(2):246-259. doi: 10.1002/cpdd.604. Epub 2018 Aug 9. Clin Pharmacol Drug Dev. 2019. PMID: 30091852 Clinical Trial.
49 results