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Newborn Screening for Pompe Disease.
Bodamer OA, Scott CR, Giugliani R; Pompe Disease Newborn Screening Working Group. Bodamer OA, et al. Among authors: giugliani r. Pediatrics. 2017 Jul;140(Suppl 1):S4-S13. doi: 10.1542/peds.2016-0280C. Pediatrics. 2017. PMID: 29162673
The Brazilian consensus on the management of Pompe disease.
Llerena JC Jr, Horovitz DM, Marie SK, Porta G, Giugliani R, Rojas MV, Martins AM; Brazilian Network for Studies in Pompe Disease (ReBrPOM). Llerena JC Jr, et al. Among authors: giugliani r. J Pediatr. 2009 Oct;155(4 Suppl):S47-56. doi: 10.1016/j.jpeds.2009.07.006. J Pediatr. 2009. PMID: 19765410 Review. No abstract available.
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.
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
Kubaski F, Mason RW, Nakatomi A, Shintaku H, Xie L, van Vlies NN, Church H, Giugliani R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii T, Fukao T, Montaño AM, Tomatsu S. Kubaski F, et al. Among authors: giugliani r. J Inherit Metab Dis. 2017 Jan;40(1):151-158. doi: 10.1007/s10545-016-9981-6. Epub 2016 Oct 7. J Inherit Metab Dis. 2017. PMID: 27718145 Free PMC article.
586 results