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| Dornelles,Alícia Dorneles; Pinto,Louise Lapagesse de Camargo; Paula,Ana Carolina de; Steiner,Carlos Eduardo; Lourenço,Charles Marques; Kim,Chong Ae; Horovitz,Dafne Dain Gandelman; Ribeiro,Erlane Marques; Valadares,Eugênia Ribeiro; Goulart,Isabela; Souza,Isabel C. Neves de; Neri,João Ivanildo da Costa; Santana-da-Silva,Luiz Carlos; Silva,Luiz Roberto; Ribeiro,Márcia; Oliveira Sobrinho,Ruy Pires de; Giuglianiand,Roberto; Schwartz,Ida Vanessa Doederlein. |
| Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Enzyme replacement therapy; Laronidase; Mucopolysaccharidosis Type I; Alph-L-iduronidase. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000100006 |
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