| 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 | 263 | 2010 |
| 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 |
| Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros R Giugliani, A Federhen, MV Muñoz Rojas, TA Vieira, O Artigalás, ... Revista da Associação Médica Brasileira 56, 271-277, 2010 | 78* | 2010 |
| Mortality for critical congenital heart diseases and associated risk factors in newborns. A cohort study SAVA Lopes, ICB Guimarães, SFO Costa, AX Acosta, KA Sandes, ... Arquivos brasileiros de cardiologia 111, 666-673, 2018 | 76 | 2018 |
| Avaliação do Programa de Triagem Neonatal na Bahia no ano de 2003 AM Almeida, TM Godinho, MS Teles, APP Rehem, HM Jalil, TG Fukuda, ... Revista Brasileira de Saude Materno Infantil 6, 85-91, 2006 | 74 | 2006 |
| Neurodevelopmental delay in normocephalic children with in utero exposure to Zika virus AV Faiçal, JC de Oliveira, JVV Oliveira, BL de Almeida, IA Agra, ... BMJ paediatrics open 3 (1), 2019 | 72 | 2019 |
| Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America R Giugliani, MLS Villarreal, C Valdez, AM Hawilou, N Guelbert, ... Genetics and molecular biology 37, 315-329, 2014 | 64 | 2014 |
| Clinical genetics in developing countries: the case of Brazil AP Marques-de-Faria, VEF Ferraz, AX Acosta, D Brunoni Public Health Genomics 7 (2-3), 95-105, 2004 | 61 | 2004 |
| Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria AX Acosta, WA Silva Jr, TM Carvalho, M Gomes, MA Zago Human mutation 17 (2), 122-130, 2001 | 60 | 2001 |
| Evaluation of the upper airway in children and adolescents with cystic fibrosis and obstructive sleep apnea syndrome RTT Ramos, C Salles, PB Gregório, AT Barros, A Santana, ... International journal of pediatric otorhinolaryngology 73 (12), 1780-1785, 2009 | 56 | 2009 |
| Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients AC Brusius-Facchin, IVD Schwartz, C Zimmer, MG Ribeiro, AX Acosta, ... Molecular genetics and metabolism 111 (2), 133-138, 2014 | 52 | 2014 |
| Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil FM Costa-Motta, AX Acosta, K Abé-Sandes, F Bender, IVD Schwartz, ... Molecular Genetics and Metabolism 104 (4), 603-607, 2011 | 52 | 2011 |
| Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI DDG Horovitz, TSPC Magalhães, A Acosta, EM Ribeiro, LR Giuliani, ... Molecular genetics and metabolism 109 (1), 62-69, 2013 | 50 | 2013 |
| A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity FM Costa-Motta, F Bender, A Acosta, K Abé-Sandes, T Machado, ... Human heredity 77 (1-4), 189-196, 2014 | 46 | 2014 |
| Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene GK Cury, U Matte, O Artigalás, T Alegra, RV Velho, F Sperb, MG Burin, ... Gene 524 (1), 59-64, 2013 | 45 | 2013 |
| Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection R Grimaldi, N Shindo, A Acosta, I Dourado, C Brites, O de Melo Carvalho, ... Human genetics 111, 102-104, 2002 | 39 | 2002 |
| Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior CE Steiner, AX Acosta, MM Guerreiro, AP Marques-de-Faria Arquivos de neuro-psiquiatria 65, 202-205, 2007 | 37 | 2007 |
| Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I R Boy, IVD Schwartz, BC Krug, LC Santana-da-Silva, CE Steiner, ... Journal of medical ethics 37 (4), 233-239, 2011 | 35 | 2011 |
| Delivering genetic education and genetic counseling for rare diseases in rural Brazil AX Acosta, K Abé-Sandes, R Giugliani, AH Bittles Journal of genetic counseling 22, 830-834, 2013 | 33 | 2013 |
| Raine dysplasia: a Brazilian case with a mild radiological involvement AX Acosta, LC Peres, LC Chimelli, JM Pina-Neto Clinical dysmorphology 9 (2), 99-101, 2000 | 33 | 2000 |
