A clinical study of 77 patients with mucopolysaccharidosis type II.

@article{Schwartz2007ACS,
  title={A clinical study of 77 patients with mucopolysaccharidosis type II.},
  author={Ida Vanessa D Schwartz and Marcia Gonçalves Ribeiro and Jo{\~a}o Gomes Mota and Maria Bet{\^a}nia Pereira Toralles and Patr{\'i}cia da Hora Correia and Dafne Dain Gandelman Horovitz and Emerson de Santana Santos and Isabella Lopes Monlle{\'o} and Agnes Cristina Fett-Conte and Ruy P Oliveira Sobrinho and Denise Y. J. Norato and Anna Carolina Paula and Chong A E Kim and Andr{\'e}a de Rezende Duarte and Raquel Boy and Eug{\^e}nia Ribeiro Valadares and Maria I. de Michelena and Paulina Mabe and Cyro D Martinhago and Jo{\~a}o Monteiro de Pina-Neto and F Kok and Sandra Leistner-Segal and Maira Graeff Burin and Roberto Giugliani},
  journal={Acta paediatrica},
  year={2007},
  volume={96 455},
  pages={
          63-70
        }
}
AIM This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). METHODS Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients. RESULTS Mean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years. For the whole sample… CONTINUE READING
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