Now showing items 1-4 of 4

    • Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI 

      Azevedo, ACMM; Schwartz, IV; Kalakun, L.; Brustolin, S.; Burin, M. G.; Beheregaray, APC; Leistner, S.; Giugliani, C.; Rosa, M.; Barrios, P.; Marinho, D.; Esteves, P.; Valadares, E.; Boy, R.; Horovitz, D.; Mabe, P.; Silva, LCS da; Souza, ICN de; Ribeiro, M.; Martins, A. M.; Palhares, D.; Kim, C. A.; Giugliani, R. (Blackwell Munksgaard, 2004-09-01)
      This paper presents data collected by a Brazilian center in a multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and ...

    • Expert recommendations for the laboratory diagnosis of MPS VI 

      Wood, T.; Bodamer, O. A.; Burin, M. G.; D'Almeida, V. [UNIFESP]; Fietz, M.; Giugliani, R.; Hawley, S. M.; Hendriksz, C. J.; Hwu, W. L.; Ketteridge, D.; Lukacs, Z.; Mendelsohn, N. J.; Miller, N.; Pasquali, M.; Schenone, A.; Schoonderwoerd, K.; Winchester, B.; Harmatz, P. (Elsevier B.V., 2012-05-01)
      Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This enzyme is required for the degradation of dermatan sulfate. in its ...

    • Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome 

      Casanova, FHC; Adan, CBD; Allemann, N.; Freitas, D. de (Lippincott Williams & Wilkins, 2001-04-01)
      Purpose. Maroteaux-Lamy syndrome is one of the mucopolysaccharidoses caused by enzyme deficiency (arylsulfatase B) that leads to incomplete degradation and storage of dermatan sulfate. We report a case of mucopolysaccharidosis ...

    • Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment 

      Giugliani, Roberto; Federhen, Andressa; Munoz Rojas, Maria Verônica; Vieira, Taiane; Artigalás, Osvaldo; Lapagesse Pinto, Louise; Azevedo, Ana Cecília; Acosta, Angelina; Bonfim, Carmen; Lourenço, Charles Marques; Chong Ae, Kim; Horovitz, Dafne; Bonfim, Denize; Norato, Denise; Marinho, Diane; Palhares, Durval; Santos, Emerson Santana; Ribeiro, Erlane; Valadares, Eugênia; Guarany, Fábio; Lucca, Gisele Rosone De; Pimentel, Helena; Souza, Isabel Neves de; Corrêa Neto, Jordão [UNIFESP]; Fraga, José Carlos; Goes, José Eduardo; Cabral, José Maria; Simionato, José; Llerena Junior, Juan; Jardim, Laura; Giuliani, Liane; Silva, Luiz Carlos Santana da; Santos, Mara L.; Moreira, Maria Angela; Kerstenetzky, Marcelo; Ribeiro, Márcia; Ruas, Nicole; Barrios, Patricia; Aranda, Paulo; Honjo, Rachel; Boy, Raquel; Costa, Ronaldo; Souza, Carolina; Alcantara, Flavio F.; Avilla, Silvio Gilberto A.; Fagondes, Simone; Martins, Ana Maria [UNIFESP] (Sociedade Brasileira de Genética, 2010-01-01)
      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 ...