| Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor … R Giugliani, L Giugliani, F de Oliveira Poswar, KC Donis, AD Corte, ... Orphanet journal of rare diseases 13, 1-11, 2018 | 128 | 2018 |
| Diagnosis of mucopolysaccharidoses F Kubaski, F de Oliveira Poswar, K Michelin-Tirelli, MG Burin, ... Diagnostics 10 (3), 172, 2020 | 61 | 2020 |
| Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ... The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020 | 59 | 2020 |
| Analysis of socio‐demographic and systemic health factors and the normative conditions of oral health care in a population of the Brazilian elderly DC Mendes, F de Oliveira Poswar, MVM de Oliveira, DSA Haikal, ... Gerodontology 29 (2), e206-e214, 2012 | 58 | 2012 |
| Lysosomal diseases: Overview on current diagnosis and treatment FO Poswar, F Vairo, M Burin, K Michelin-Tirelli, AC Brusius-Facchin, ... Genetics and molecular biology 42, 165-177, 2019 | 56 | 2019 |
| Mucopolysaccharidosis type I F Kubaski, F de Oliveira Poswar, K Michelin-Tirelli, US Matte, DD Horovitz, ... Diagnostics 10 (3), 161, 2020 | 47 | 2020 |
| Bioinformatics, interaction network analysis, and neural networks to characterize gene expression of radicular cyst and periapical granuloma F de Oliveira Poswar, LC Farias, CA de Carvalho Fraga, W Bambirra Jr, ... Journal of endodontics 41 (6), 877-883, 2015 | 47 | 2015 |
| Immunohistochemical analysis of TIMP-3 and MMP-9 in actinic keratosis, squamous cell carcinoma of the skin, and basal cell carcinoma FO Poswar, CAC Fraga, LC Farias, JD Feltenberger, VPD Cruz, ... Pathology-Research and Practice 209 (11), 705-709, 2013 | 46 | 2013 |
| Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS R Giugliani, F Vairo, F Kubaski, F Poswar, M Riegel, G Baldo, JA Saute The Lancet Child & Adolescent Health 2 (1), 56-68, 2018 | 44 | 2018 |
| Protein expression of MMP-2 and MT1-MMP in actinic keratosis, squamous cell carcinoma of the skin, and basal cell carcinoma F de Oliveira Poswar, CA de Carvalho Fraga, ESB Gomes, LC Farias, ... International journal of surgical pathology 23 (1), 20-25, 2015 | 33 | 2015 |
| Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis FO Poswar, RMT da Fonseca, LCP de Albuquerque, Q Zhou, LB Jardim, ... Journal of neurology 263, 818-820, 2016 | 26 | 2016 |
| Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome CT Kozycki, S Kodati, L Huryn, H Wang, BM Warner, P Jani, D Hammoud, ... Annals of the rheumatic diseases 81 (10), 1453-1464, 2022 | 23 | 2022 |
| Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy FO Poswar, CFM de Souza, R Giugliani, G Baldo Heart and Vessels 34, 290-295, 2019 | 23 | 2019 |
| Phase I and II clinical trials for the mucopolysaccharidoses F Poswar, G Baldo, R Giugliani Expert Opinion on Investigational Drugs 26 (12), 1331-1340, 2017 | 19 | 2017 |
| Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: Efficacy, safety, and prospects R Giugliani, A Dalla Corte, F Poswar, C Vanzella, D Horovitz, M Riegel, ... Expert Opinion on Orphan Drugs 6 (7), 403-411, 2018 | 15 | 2018 |
| Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome AC Cardoso-dos-Santos, T Oliveira Silva, A Silveira Faccini, ... Molecular Syndromology 11 (1), 24-29, 2020 | 14 | 2020 |
| LIGA ACADÊMICA:: INSTRUMENTO DE ENSINO, PESQUISA E EXTENSÃO UNIVERSITÁRIA JA Carneiro, FM Da Costa, FDO Poswar, MOS de Freitas Revista Gestão & Saúde 6 (1), 667-679, 2015 | 13 | 2015 |
| An adaptation of particle swarm clustering applied in basal cell carcinoma, squamous cell carcinoma of the skin and actinic keratosis F de Oliveira Poswar, LI Santos, LC Farias, TA Guimarães, SHS Santos, ... Meta gene 12, 72-77, 2017 | 11 | 2017 |
| Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome JAM Saute, CFM Souza, FO Poswar, KC Donis, LG Campos, AVS Deyl, ... Arquivos de Neuro-Psiquiatria 74, 953-966, 2016 | 11 | 2016 |
| Progression of cardiovascular manifestations in adults and children with mucopolysaccharidoses with and without enzyme replacement therapy FO Poswar, HS Santos, ABS Santos, SV Berger, CFM Souza, R Giugliani, ... Frontiers in Cardiovascular Medicine 8, 801147, 2022 | 9 | 2022 |
Roberto GiuglianiHead of Rare Diseases DASA, Founder CASA DOS RAROS, Med Genet Serv HCPA, Dep Genetics & PPGBM UFRGSVerified email at hcpa.edu.br
