Now showing items 1-7 of 7

    • Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil 

      Trevisan, Luciano Mangueira; Nalin, Tatiéle; Tonon, Tássia; Veiga, Lauren; Vargas, Paula; Krug, Bárbara Côrrea; Leivas, Paulo Gilberto Cogo; Schwartz, Ida Vanessa Doederlein (2015) [Journal article]
      Treatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial ...
    • Análise da densidade mineral óssea em pacientes com fenilcetonúria e sua correlação com parâmetros nutricionais 

      Pérsico, Raquel Stocker; Nalin, Tatiéle; Refosco, Lilia Farret; Vairo, Filippo Pinto e; Souza, Carolina Fischinger Moura de; Santos, Bruna Bento dos; Schwartz, Ida Vanessa Doederlein (2019) [Journal article]
    • Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul 

      Tonon, Tássia; Sisti, Elisa; Nalin, Tatiéle; Schwartz, Ida Vanessa Doederlein (2018) [Journal article]
      Introduction: Newborn screening allows the screening of diseases that are still in the asymptomatic period and whose early diagnosis and treatment are associated with reduced infant morbidity and mortality. The aim of this ...
    • Bone mineral density in patients with hepatic glycogen storage diseases 

      Jacoby, Jesica Tamara; Santos, Bruna Bento dos; Nalin, Tatiéle; Colonetti, Karina; Refosco, Lilia Farret; Souza, Carolina Fischinger Moura de; Spritzer, Poli Mara; Poloni, Soraia; Mendes, Roberta Hack; Schwartz, Ida Vanessa Doederlein (2021) [Journal article]
      The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including ...
    • Fenilcetonúria no sistema único de saúde : avaliação de adesão ao tratamento em um centro de atendimento do Rio Grande do Sul 

      Nalin, Tatiéle; Perry, Ingrid Dalira Schweigert; Refosco, Lilia Farret; Netto, Cristina Brinckmann Oliveira; Souza, Carolina Fischinger Moura de; Vieira, Tatiane Alves; Picon, Paulo Dornelles; Schwartz, Ida Vanessa Doederlein (2010) [Journal article]
      Introdução: Fenilcetonúria (PKU) é um erro inato do metabolismo no qual ocorre um aumento dos níveis séricos do aminoácido fenilalanina. Objetivo: O presente estudo teve como objetivo avaliar a adesão ao tratamento de ...
    • Hepatic glycogen storage diseases are associated to microbial dysbiosis 

      Colonetti, Karina; Santos, Bruna Bento dos; Nalin, Tatiéle; Souza, Carolina Fischinger Moura de; Triplett, Eric W.; Dobbler, Priscila Caroline Thiago; Schwartz, Ida Vanessa Doederlein; Roesch, Luiz Fernando Wurdig (2019) [Journal article]
      Introduction The gut microbiome has been related to several features present in Glycogen Storage Diseases (GSD) patients including obesity, inflammatory bowel disease (IBD) and liver disease. Objectives The primary objective ...
    • Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency 

      Giugliani, Luciana; Sitta, Angela; Vargas, Carmen Regla; Silva, Luiz Carlos Santana da; Nalin, Tatiéle; Pereira, Maria Luiza Saraiva; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein (2011) [Journal article]
      Objetivo: Identificar indivíduos responsivos à tetrahibrobiopterina (BH4) em uma amostra de pacientes brasileiros com hiperfenilalaninemia por deficiência de fenilalanina-hidroxilase (HPA-PAH). Métodos: Estudo intervencional, ...