Now showing items 1-2 of 2

    • 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 ...

    • 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 ...