Navegação por Assunto "Mucopolysaccharidosis II"

Resultados 1-7 de 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) [Artigo de periódico]
      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 ...

    • Enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis II : an integrated analysis of preclinical and clinical data 

      Giugliani, Roberto; Martins, Ana Maria (Medicina); Okuyama, Torayuki; Eto, Yoshikatsu; Sakai, Norio; Nakamura, Kimitoshi; Morimoto, Hideto; Minami, Kohtato; Yamamoto, Tatsuyoshi; Yamaoka, Mariko; Ikeda, Toshiaki; So, Sairei; Tanizawa, Kazunori; Sonoda, Hiroyuki; Schmidt, Mathias; Sato, Yuji (2021) [Artigo de periódico]
      Enzyme replacement therapy (ERT) improves somatic manifestations in mucopolysaccharidoses (MPS). However, because intravenously administered enzymes cannot cross the blood–brain barrier (BBB), ERT is ineffective against ...

    • Evaluation of the long-term treatment efects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling : data from the Hunter Outcome Survey (HOS) 

      Muenzer, Joseph; Botha, Jaco; Harmatz, Paul; Giugliani, Roberto; Kampmann, Christoph; Burton, Barbara K. (2021) [Artigo de periódico]
      Background: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by defcient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) ...

    • Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II : a phase 2 trial in Brazil 

      Giugliani, Roberto; Martins, Ana Maria (Medicina); So, Sairei; Yamamoto, Tatsuyoshi; Yamaoka, Mariko; Ikeda, Toshiaki; Tanizawa, Kazunori; Sonoda, Hiroyuki; Schmidt, Mathias; Sato, Yuji (2021) [Artigo de periódico]
      In Hunter syndrome (mucopolysaccharidosis II [MPS-II]),systemic accumulation of glycosaminoglycans (GAGs) dueto a deficiency of iduronate-2-sulfatase (IDS), caused by mu-tations in theIDSgene, leads to multiple somatic ...

    • Prospective study of 11 brazilian patients with mucopolysaccharidosis II 

      Pinto, Louise Lapagesse de Camargo; Schwartz, Ida Vanessa Doederlein; Puga, Ana Cristina Scheidt; Vieira, Taiane Alves; Munõz Rojas, Maria Verônica; Giugliani, Roberto (2006) [Artigo de periódico]
      Objetivo: Avaliar a progressão da mucopolissacaridose II, durante um período de 12 meses, em 11 pacientes brasileiros. Métodos: Onze pacientes brasileiros com mucopolissacaridose II foram avaliados prospectivamente no ...

    • 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 ...