Now showing items 1-7 of 7

    • Clinical profile among brazilian Mucopolysaccharidosis type II patients : subgroup analysis from the Hunter Outcome Survey 

      Horovitz, Dafne Dain Gandelman; Ribeiro, Márcia Gonçalves; Acosta, Angelina Xavier; Monteiro, Ana Cristina Martins; Botha, Jaco; Giugliani, Roberto (2023) [Journal article]
      Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data ...
    • Epidemiology of rare diseases in Brazil : protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) 

      Felix, Temis Maria; Oliveira, Bibiana Mello de; Artifon, Milena; Carvalho, Isabelle; Bernardi, Filipe Andrade; Schwartz, Ida Vanessa Doederlein; Saute, Jonas Alex Morales; Ferraz, Victor Evangelista de Faria; Acosta, Angelina Xavier; Sorte, Ney Boa; Alves, Domingos Savio do Nascimento; Faccini, Lavinia Schuler; Giugliani, Roberto; Sanseverino, Maria Teresa Vieira; RARAS Network Group (2022) [Journal article]
      The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases ...
    • Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America 

      Giugliani, Roberto; Solano Villareal, Martha Luz; Arellano Valdez, Carmen Araceli; Mahfoud Hawilou, Antonieta; Guelbert, Norberto; Correa Garzón, Luz Norela; Martins, Ana Maria (Medicina); Acosta, Angelina Xavier; Cabello, Juan Francisco; Lemes, Aída; Santos, Mara Lúcia Schmitz Ferreira; Amartino, Hernan (2014) [Journal article]
      This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment ...
    • Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment 

      Giugliani, Roberto; Federhen, Andressa; Munõz Rojas, Maria Verônica; Vieira, Taiane Alves; Artigalas, Osvaldo Alfonso Pinto; Pinto, Louise Lapagesse de Camargo; Azevedo, Ana Cecília Medeiros Mano; Acosta, Angelina Xavier; Bonfim, Carmem Maria Sales; Lourenço, Charles Marques; Kim, Chong Ae; Horovitz, Dafne Dain Gandelman; Bonfim, Denize; Norato, Denise Y.J.; Marinho, Diane Ruschel; Palhares, Durval; Santos, Emerson Santana; Ribeiro, Erlane Marques; Valadares, Eugênia Ribeiro; Guarany, Fábio Coelho; Lucca, Gisele Rosone de; Pimentel, Helena; Souza, Isabel Neves de; Corrêa Neto, Jordão; Fraga, José Carlos Soares de; Góes, José Eduardo Coutinho; Cabral, José Maria; Simionato, José; Llerena Junior, Juan Clinton; Jardim, Laura Bannach; Giuliani, Liane de Rosso; Silva, Luiz Carlos Santana da; Santos, Mara Lúcia Ferreira; Moreira, Maria Ângela Fontoura; Kerstenetzky, Marcelo; Ribeiro, Márcia Gonçalves; Ruas, Nicole; Barrios, Patricia Martins Moura; Aranda, Paulo Cesar; Honjo, Raquel S.; Boy, Raquel; Costa, Ronaldo David da; Souza, Carolina Fischinger Moura de; Alcântara, Flavio F.; Avilla, Sylvio Gilberto A.; Fagondes, Simone Chaves; Martins, Ana Maria (Medicina) (2010) [Journal article]
      Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of ...
    • Population medical genetics : translating science to the community 

      Giugliani, Roberto; Bender, Fernanda; Couto, Rowena Rubim Silva do; Bochernitsan, Aline Nemetz; Facchin, Ana Carolina Brusius; Burin, Maira Graeff; Amorim, Tatiana; Acosta, Angelina Xavier; Purificação, Antônio Conceição da; Leistner-Segal, Sandra; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Matte, Ursula da Silveira; Riegel, Mariluce; Santos, Augusto César Cardoso dos; Rodrigues, Graziella Ramos; Oliveira, Marcelo Zagonel de; Ribeiro, Alice Tagliani; Heck, Selia Maria; Dresch, Vanusa; Faccini, Lavinia Schuler; Kubaski, Francyne (2019) [Journal article]
      Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation ...
    • Quality of life in mucopolysaccharidoses : construction of a specific measure using the focus group technique 

      Oliveira, Michele Rosana; Schwartz, Ida Vanessa Doederlein; Costa, Liciane da Silva; Maia Filho, Heber de Souza; Ribeiro, Márcia Gonçalves; Guerreiro, L. B.; Acosta, Angelina Xavier; Rocha, Neusa Sica da (2018) [Journal article]
      Abstract Objective: To describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with ...
    • Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI : recomendações de um grupo de especialistas brasileiros 

      Giugliani, Roberto; Federhen, Andressa; Munõz Rojas, Maria Verônica; Vieira, Taiane Alves; Artigalas, Osvaldo Alfonso Pinto; Pinto, Louise Lapagesse de Camargo; Azevedo, Ana Cecília Medeiros Mano; Acosta, Angelina Xavier; Bonfim, Carmem Maria Sales; Lourenço, Charles Marques; Kim, Chong Ae; Horovitz, Dafne Dain Gandelman; Souza, Denize Bomfim; Norato, Denise Y.J.; Marinho, Diane Ruschel; Palhares, Durval; Santos, Emerson de Santana; Ribeiro, Erlane Marques; Valadares, Eugênia Ribeiro; Guarany, Fábio Coelho; Lucca, Gisele Rosone de; Pimentel, Helena; Souza, Isabel Neves de; Corrêa Neto, Jordão; Fraga, José Carlos Soares de; Góes, José Eduardo Coutinho; Cabral, José Maria; Simeonato, José; Llerena Junior, Juan Clinton; Jardim, Laura Bannach; Giuliani, Liane de Rosso; Silva, Luiz Carlos Santana da; Santos, Mara Lúcia Ferreira; Moreira, Maria Ângela Fontoura; Kerstenetzky, Marcelo; Ribeiro, Márcia Gonçalves; Ruas, Nicole; Barrios, Patricia Martins Moura; Aranda, Paulo Cesar; Honjo, Raquel S.; Boy, Raquel; Costa, Ronaldo David da; Souza, Carolina Fischinger Moura de; Alcântara, Flavio F.; Avilla, Sylvio Gilberto A.; Fagondes, Simone Chaves; Martins, Ana Maria (Medicina) (2010) [Journal article]
      As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos ...