Listar por tema "Glicosaminoglicanos"

Mostrando ítems 1-6 de 6

    • Leukocyte imbalances in Mucopolysaccharidoses patients 

      Lopes, Nuno; Maia, Maria L.; Pereira, Catia S.; Rodrigues, Inês Mondragão; Martins, Esmeralda; Ribeiro, Rosa; Gaspar, Ana; Aguiar, Patrício; Garcia, Paula; Cardoso, Maria Teresa; Rodrigues, Esmeralda; Teles, Elisa Leão; Giugliani, Roberto; Coutinho, Maria F.; Alves, Sandra; Macedo, Maria de Fátima Matos Almeida Henriques de (2023) [Artículo de periódico]
      Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic ...

    • MUCOPOLISSACARIDOSES: MANIFESTAÇÕES CLÍNICAS E IMPORTÂNCIA DE UM ATENDIMENTO MULTIDISCIPLINAR 

      Salão de Extensão (12. : 2011 out. 03-07: UFRGS, Porto Alegre, RS) (2011) [Resumen publicado en evento]

    • Mucopolissacaridose tipo I em cão 

      Amaral, Andreza da Silva; Sales, Nathali Adrielli Agassi de; Rosado, Isabel Rodrigues; Giugliani, Roberto; Burin, Maira Graeff; Baldo, Guilherme; Martin, Ian; Alves, Endrigo Gabellini Leonel (2021) [Artículo de periódico]
      Background: Mucopolysaccharidoses (MPS) are a group of rare illnesses caused by deficient activity of enzymes required for degradation of glycosaminoglycans (GAGs). Each type of MPS is caused by mutations in one of the ...

    • Mucopolysaccharidosis VII in Brazil : natural history and clinical findings 

      Giugliani, Roberto; Garcia, Daniel (2021) [Artículo de periódico]
      Background: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by defciency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications ...

    • Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives 

      Kubaski, Francyne; Sousa, Inês; Amorim, Tatiana; Pereira, Danilo; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Burlina, A.; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Tomatsu, Shunji; Giugliani, Roberto (2020) [Artículo de periódico]
      Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming ...

    • Triagem para formas atenuadas de mucopolissacaridose em pacientes com problemas ósteo-articulares de etiologia desconhecida 

      Siqueira, Thabata Caroline da Rocha (2015) [Tesis de maestría]
      Introdução: As mucopolissacaridoses (MPS) são um conjunto de sete doenças genéticas incluídas dentro das Doenças Lisossômicas que por sua vez fazem parte dos Erros Inatos do Metabolismo (EIM). São doenças multissistêmicas ...