• Clinical research challenges in rare genetic diseases in Brazil 

      Giugliani, Luciana; Vanzella, Cláudia; Zambrano, Marina Bauer; Donis, Karina Carvalho; Wallau, Thaís Klassmann Wendland; Costa, Fernando Machado da; Giugliani, Roberto (2019) [Artigo de periódico]
      Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions ...
    • Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL 

      Vanz, Ana Paula; Lee, Juliana van de Sande; Pinheiro, Bruna de Souza; Zambrano, Marina Bauer; Brizola, Evelise Silva; Rocha, Neusa Sica da; Schwartz, Ida Vanessa Doederlein; Pires, Maria Marlene de Souza; Felix, Temis Maria (2018) [Artigo de periódico]
      Background: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy ...