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 | 438 | 2006 |
Gender, race and parenthood impact academic productivity during the COVID-19 pandemic: from survey to action F Staniscuaski, L Kmetzsch, RC Soletti, F Reichert, E Zandonà, ... Frontiers in psychology 12, 663252, 2021 | 282 | 2021 |
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 | 242 | 2008 |
Multidisciplinary management of Hunter syndrome J Muenzer, M Beck, CM Eng, ML Escolar, R Giugliani, NH Guffon, ... Pediatrics 124 (6), e1228-e1239, 2009 | 241 | 2009 |
Impact of COVID-19 on academic mothers F Staniscuaski, F Reichert, FP Werneck, L de Oliveira, PB Mello-Carpes, ... Science 368 (6492), 724-724, 2020 | 216 | 2020 |
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy … SJ Swiedler, M Beck, M Bajbouj, R Giugliani, I Schwartz, P Harmatz, ... American journal of medical genetics Part A 134 (2), 144-150, 2005 | 198 | 2005 |
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI ACMM Azevedo, IV Schwartz, L Kalakun, S Brustolin, MG Burin, ... Clinical genetics 66 (3), 208-213, 2004 | 173 | 2004 |
A clinical study of 77 patients with mucopolysaccharidosis type II IVD Schwartz, MG Ribeiro, JG Mota, MBP Toralles, P Correia, D Horovitz, ... Acta Paediatrica 96, 63-70, 2007 | 172 | 2007 |
Consequências da judicialização das políticas de saúde: custos de medicamentos para as mucopolissacaridoses D Diniz, M Medeiros, IVD Schwartz Cadernos de Saúde Pública 28, 479-489, 2012 | 128 | 2012 |
Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? T Vieira, I Schwartz, V Munoz, L Pinto, C Steiner, M Ribeiro, R Boy, ... American Journal of Medical Genetics Part A 146 (13), 1741-1747, 2008 | 123 | 2008 |
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human N‐acetylgalactosamine 4‐sulfatase P Harmatz, ZF Yu, R Giugliani, IVD Schwartz, N Guffon, EL Teles, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 119 | 2010 |
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review LLC Pinto, TA Vieira, R Giugliani, IVD Schwartz Orphanet journal of rare diseases 5, 1-10, 2010 | 111 | 2010 |
A tese da judicialização da saúde pelas elites: os medicamentos para mucopolissacaridose M Medeiros, D Diniz, IVD Schwartz Ciência & Saúde Coletiva 18, 1089-1098, 2013 | 110 | 2013 |
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA S Tomatsu, K Okamura, T Taketani, KO Orii, T Nishioka, MA Gutierrez, ... Pediatric research 55 (4), 592-597, 2004 | 108 | 2004 |
Triagem neonatal de distúrbios metabólicos CF Souza, IV Schwartz, R Giugliani Ciência & Saúde Coletiva 7, 129-137, 2002 | 107 | 2002 |
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients U Matte, G Yogalingam, D Brooks, S Leistner, I Schwartz, L Lima, ... Molecular genetics and metabolism 78 (1), 37-43, 2003 | 102 | 2003 |
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses S Tomatsu, K Okamura, H Maeda, T Taketani, SV Castrillon, MA Gutierrez, ... Journal of inherited metabolic disease 28 (2), 187-202, 2005 | 100 | 2005 |
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy L Jardim, L Vedolin, IVD Schwartz, MG Burin, C Cecchin, L Kalakun, ... Journal of inherited metabolic disease 27, 229-240, 2004 | 99 | 2004 |
New cases of thalidomide embryopathy in Brazil L Schuler‐Faccini, RCF Soares, ACM de Sousa, C Maximino, E Luna, ... Birth Defects Research Part A: Clinical and Molecular Teratology 79 (9), 671-672, 2007 | 97 | 2007 |
Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings L Vedolin, IVD Schwartz, M Komlos, A Schuch, AC Azevedo, T Vieira, ... Neurology 69 (9), 917-924, 2007 | 90 | 2007 |