A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) J Muenzer, JE Wraith, M Beck, R Giugliani, P Harmatz, CM Eng, A Vellodi, ... Genetics in medicine 8 (8), 465-473, 2006 | 728 | 2006 |
Treatment of Fabry’s disease with the pharmacologic chaperone migalastat DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ... New england journal of medicine 375 (6), 545-555, 2016 | 631 | 2016 |
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine … P Harmatz, R Giugliani, I Schwartz, N Guffon, EL Teles, MCS Miranda, ... The Journal of pediatrics 148 (4), 533-539. e6, 2006 | 445 | 2006 |
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome) R Martin, M Beck, C Eng, R Giugliani, P Harmatz, V Muñoz, J Muenzer Pediatrics 121 (2), e377-e386, 2008 | 420 | 2008 |
Management guidelines for mucopolysaccharidosis VI R Giugliani, P Harmatz, JE Wraith Pediatrics 120 (2), 405-418, 2007 | 387 | 2007 |
Natural course of Fabry disease: changing pattern of causes of death in FOS–Fabry Outcome Survey A Mehta, JTR Clarke, R Giugliani, P Elliott, A Linhart, M Beck, ... Journal of medical genetics 46 (8), 548-552, 2009 | 374 | 2009 |
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data A Mehta, M Beck, P Elliott, R Giugliani, A Linhart, G Sunder-Plassmann, ... The Lancet 374 (9706), 1986-1996, 2009 | 345 | 2009 |
Genetics of homocysteine metabolism and associated disorders S Brustolin, R Giugliani, TM Felix Brazilian Journal of Medical and Biological Research 43, 1-7, 2010 | 340 | 2010 |
Epidemiology of mucopolysaccharidoses SA Khan, H Peracha, D Ballhausen, A Wiesbauer, M Rohrbach, ... Molecular genetics and metabolism 121 (3), 227-240, 2017 | 327 | 2017 |
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management EA Braunlin, PR Harmatz, M Scarpa, B Furlanetto, C Kampmann, ... Journal of inherited metabolic disease 34, 1183-1197, 2011 | 321 | 2011 |
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment R Giugliani, A Federhen, MV Muñoz Rojas, T Vieira, O Artigalás, ... Genetics and molecular biology 33, 589-604, 2010 | 277 | 2010 |
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after … P Harmatz, D Ketteridge, R Giugliani, N Guffon, EL Teles, MCS Miranda, ... Pediatrics 115 (6), e681-e689, 2005 | 266 | 2005 |
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat ER Benjamin, MC Della Valle, X Wu, E Katz, F Pruthi, S Bond, B Bronfin, ... Genetics in Medicine 19 (4), 430-438, 2017 | 261 | 2017 |
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome J Muenzer, M Beck, CM Eng, R Giugliani, P Harmatz, R Martin, ... Genetics in Medicine 13 (2), 95-101, 2011 | 257 | 2011 |
Multidisciplinary management of Hunter syndrome J Muenzer, M Beck, CM Eng, ML Escolar, R Giugliani, NH Guffon, ... Pediatrics 124 (6), e1228-e1239, 2009 | 250 | 2009 |
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant … P Harmatz, R Giugliani, IVD Schwartz, N Guffon, EL Teles, MCS Miranda, ... Molecular genetics and metabolism 94 (4), 469-475, 2008 | 247 | 2008 |
Primary renal hypoplasiain humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax21Neu +/– mutant mice S Porteous, E Torban, NP Cho, H Cunliffe, L Chua, L McNoe, T Ward, ... Human molecular genetics 9 (1), 1-11, 2000 | 238 | 2000 |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families MIW Achatz, M Olivier, F Le Calvez, G Martel-Planche, A Lopes, BM Rossi, ... Cancer letters 245 (1-2), 96-102, 2007 | 236 | 2007 |
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study CJ Hendriksz, B Burton, TR Fleming, P Harmatz, D Hughes, SA Jones, ... Journal of inherited metabolic disease 37, 979-990, 2014 | 230 | 2014 |
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B MM McGovern, MP Wasserstein, R Giugliani, B Bembi, MT Vanier, ... Pediatrics 122 (2), e341-e349, 2008 | 218 | 2008 |