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574 results

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The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ. Benjamin ER, et al. Among authors: giugliani r. Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657681 Free PMC article.
Molecular characterization of phenylketonuria in South Brazil.
Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R, Saraiva Pereira ML. Santana da Silva LC, et al. Among authors: giugliani r. Mol Genet Metab. 2003 May;79(1):17-24. doi: 10.1016/s1096-7192(03)00032-5. Mol Genet Metab. 2003. PMID: 12765842
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S, Lockhart DJ, Boudes PF. Germain DP, et al. Among authors: giugliani r. Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91. Orphanet J Rare Dis. 2012. PMID: 23176611 Free PMC article. Clinical Trial.
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
Young-Gqamana B, Brignol N, Chang HH, Khanna R, Soska R, Fuller M, Sitaraman SA, Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER. Young-Gqamana B, et al. Among authors: giugliani r. PLoS One. 2013;8(3):e57631. doi: 10.1371/journal.pone.0057631. Epub 2013 Mar 5. PLoS One. 2013. PMID: 23472096 Free PMC article.
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis.
Beck M, Hughes D, Kampmann C, Larroque S, Mehta A, Pintos-Morell G, Ramaswami U, West M, Wijatyk A, Giugliani R; Fabry Outcome Survey Study Group. Beck M, et al. Among authors: giugliani r. Mol Genet Metab Rep. 2015 Mar 5;3:21-7. doi: 10.1016/j.ymgmr.2015.02.002. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937390 Free PMC article.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: giugliani r. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
574 results