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574 results

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Page 1
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Akyol MU, et al. Among authors: giugliani r. Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y. Orphanet J Rare Dis. 2019. PMID: 31142378 Free PMC article.
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ, Guffon N, Sá Miranda MC, Teles EL, Berger KI, Piscia-Nichols C. Swiedler SJ, et al. Among authors: giugliani r. Am J Med Genet A. 2005 Apr 15;134A(2):144-50. doi: 10.1002/ajmg.a.30579. Am J Med Genet A. 2005. PMID: 15690405
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, Yu ZF, Swiedler SJ, Hopwood JJ; MPS VI Study Group. Harmatz P, et al. Among authors: giugliani r. Pediatrics. 2005 Jun;115(6):e681-9. doi: 10.1542/peds.2004-1023. Pediatrics. 2005. PMID: 15930196 Clinical Trial.
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis E, Swiedler SJ; MPS VI Phase 3 Study Group. Harmatz P, et al. Among authors: giugliani r. J Pediatr. 2006 Apr;148(4):533-539. doi: 10.1016/j.jpeds.2005.12.014. J Pediatr. 2006. PMID: 16647419 Clinical Trial.
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Puga AC, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Kimura A. Muenzer J, et al. Among authors: giugliani r. Genet Med. 2006 Aug;8(8):465-73. doi: 10.1097/01.gim.0000232477.37660.fb. Genet Med. 2006. PMID: 16912578 Free article. Clinical Trial.
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ. Karageorgos L, et al. Among authors: giugliani r. Hum Mutat. 2007 Sep;28(9):897-903. doi: 10.1002/humu.20534. Hum Mutat. 2007. PMID: 17458871
[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report].
Marinho D, Azevedo AC, Rymer S, Giugliani R, Schwartz IV. Marinho D, et al. Among authors: giugliani r. Arq Bras Oftalmol. 2007 May-Jun;70(3):563; author reply 564. Arq Bras Oftalmol. 2007. PMID: 17768572 Free article. Portuguese. No abstract available.
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Harmatz P, Giugliani R, D Schwartz IV, Guffon N, Teles EL, Miranda MCS, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C; MPS VI Study Group. Harmatz P, et al. Among authors: giugliani r. Mol Genet Metab. 2008 Aug;94(4):469-475. doi: 10.1016/j.ymgme.2008.04.001. Epub 2008 May 23. Mol Genet Metab. 2008. PMID: 18502162 Clinical Trial.
574 results