Recent Submissions

  • Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey 

    Link, Bianca; Botha, Jaco; Giugliani, Roberto (2024) [Journal article]
    Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage dis- ease caused by reduced iduronate-2-sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint ...
  • Leukocyte imbalances in Mucopolysaccharidoses patients 

    Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Rodrigues, Inês Mondragão; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patrício; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Teles, Elisa Leão; Giugliani, Roberto; Coutinho, Maria F.; Alves, Sandra; Macedo, Maria de Fátima Matos Almeida Henriques de (2023) [Journal article]
    Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic ...
  • First report of chemical composition and cytotoxicity evaluation of Foraminispora rugosa basidiomata from Brazil 

    Garcia, Viviane de Oliveira; Fronza, Marcio; Von Borowski, Rafael Gomes; Silva, Genivaldo Alves; Zimmer, Aline Rigon; Ruaro, Thais Carine; Gnoatto, Simone Cristina Baggio; Dallegrave, Alexsandro; Silveira, Rosa Mara Borges da (2022) [Journal article]
    Foraminispora rugosa is a species reported from Brazil, Venezuela, French Guiana, Costa Rica and Cuba. It is a basidiomycete in the Ganodermataceae family. In this study, both chemical composition and cytotoxicity of the ...
  • Unmet needs in countries participating in the undiagnosed diseases network international : an international survey considering national health care and economic indicators 

    Cunha-Cruz, Joana; Sciascia, Savino; Giugliani, Roberto; Taruscio, Domenica (2022) [Journal article]
    Background: Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare ...
  • Trabalho interprofissional e práticas colaborativas em saúde durante a pandemia de covid-19 

    Fonsêca, Graciela Soares; Cassaro, Bernarda Cesira; Borin, Emanoeli Rostirola; Lanzini, Maurício; Carabagialle, Viridiane Klabunde; Souza, Carolina Rogel de; Pires, Fabiana Schneider (2023) [Journal article]
    Introdução: desde 2020, muito se tem discutido sobre a organização das práticas de saúde para enfrentamento da covid-19, incluindo a prevenção e recuperação das dezenas de sequelas atribuídas aos casos de doença na população. ...
  • Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes 

    Borges, Pâmella; Pasqualim, Gabriela; Giugliani, Roberto; Vairo, Filippo Pinto e; Matte, Ursula da Silveira (2020) [Journal article]
    Background: In this study, the prevalence of diferent types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The ...
  • Clinical outcomes and prognostic factors of head and neck squamous cell carcinoma : a ten-year follow-up study 

    Dias, Kelly Bienk; Hildebrand, Laura de Campos; Carvalho, Ana Luísa Saraiva Homem de; Ferri, Camila Alves; Nor, Jacques Eduardo; Cerski, Carlos Thadeu Schmidt; Visioli, Fernanda; Oliveira, Márcia Gaiger de; Rados, Pantelis Varvaki (2023) [Journal article]
    Traditional guidelines for determining the prognosis of patients with head and neck squamous cell carcinoma (HNSCC) are used to make therapeutic decisions. However, only 50% of the patients had lived for more than five ...
  • The role of proteasome in muscle wasting of experimental arthritis 

    Teixeira, Vivian de Oliveira Nunes; Bartikoski, Bárbara Jonson; Espírito Santo, Rafaela Cavalheiro do; Alabarse, Paulo Vinicius Gil; Ghannan, Khetam; Silva, Jordana Miranda de Souza; Filippin, Lidiane Isabel; Visioli, Fernanda; Martinez-Gamboa, Lorena; Feist, Eugen; Xavier, Ricardo Machado (2023) [Journal article]
    Background Rheumatoid arthritis is an autoimmune infammatory disease that often leads patients to muscle impairment and physical disability. This study aimed to evaluate changes in the activity of proteasome system in skel‑ ...
  • Teorias e análises interseccionais no enfrentamento político de desigualdades e opressões 

    Pizzinato, Adolfo; Hernandez, Aline Reis Calvo; Seixas, Conceição; Machado, Frederico Viana (2020) [Introductory and closing remarks]
  • Chemoprevention in oral leukoplakia : challenges and current landscape 

    Palma, Victor de Mello; Laureano, Natalia Koerich; Frank, Luiza Abrahão; Rados, Pantelis Varvaki; Visioli, Fernanda (2023) [Journal article]
    Oral potentially malignant disorders have the potential to transform into oral cancer. Oral leukoplakia is a prevalent OPMD with a 9.8% malignant transformation rate. The standard management for OL involves surgical excision, ...

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