Roberto Giugliani
Roberto Giugliani
Head of Rare Diseases DASA, Founder CASA DOS RAROS, Med Genet Serv HCPA, Dep Genetics & PPGBM UFRGS
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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
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
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
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
Management guidelines for mucopolysaccharidosis VI
R Giugliani, P Harmatz, JE Wraith
Pediatrics 120 (2), 405-418, 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
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
Genetics of homocysteine metabolism and associated disorders
S Brustolin, R Giugliani, TM Felix
Brazilian Journal of Medical and Biological Research 43, 1-7, 2010
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
Epidemiology of mucopolysaccharidoses
SA Khan, H Peracha, D Ballhausen, A Wiesbauer, M Rohrbach, ...
Molecular genetics and metabolism 121 (3), 227-240, 2017
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
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
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
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
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
Multidisciplinary management of Hunter syndrome
J Muenzer, M Beck, CM Eng, ML Escolar, R Giugliani, NH Guffon, ...
Pediatrics 124 (6), e1228-e1239, 2009
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
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
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
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder
S Pang, A Clark, EC Neto, R Giugliani, H Dean, J Winter, JL Dhondt, ...
Screening 2 (2-3), 105-139, 1993
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