Navegação Ciências da Saúde por Assunto "Mucopolysaccharidosis VI"

Resultados 1-4 de 4

    • Diagnostic and treatment strategies in mucopolysaccharidosis VI 

      Vairo, Filippo Pinto e; Federhen, Andressa; Baldo, Guilherme; Burin, Maira Graeff; Riegel, Mariluce; Leistner-Segal, Sandra; Giugliani, Roberto (2015) [Artigo de periódico]
      Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown ...

    • Long-term galsufase treatment associated with improved survival of patients with mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) : 15-year follow-up from the survey study 

      Quartel, Adrian; Harmatz, Paul; Lampe, Christina; Guffon, Nathalie; Ketteridge, David; Teles, Elisa Leão; Jones, Simon A.; Giugliani, Roberto (2018) [Artigo de periódico]
      Mucopolysaccharidosis VI (MPS VI) is a progressive lysosomal storage disorder with multiorgan and multisystemic pathology. Currently, galsulfase enzyme replacement therapy (ERT) is the only approved treatment for MPS VI. ...

    • 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) [Artigo de periódico]
      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 ...

    • Understanding the early presentation of mucopolysaccharidoses disorders : results of a systematic literature review and physician survey 

      Clarke, Lorne A.; Wijburg, Frits; Giugliani, Roberto (2018) [Artigo de periódico]
      As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related ...