Ontology highlight
ABSTRACT:
SUBMITTER: Dornelles AD
PROVIDER: S-EPMC3958322 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Dornelles Alícia Dorneles AD de Camargo Pinto Louise Lapagesse LL de Paula Ana Carolina AC Steiner Carlos Eduardo CE Lourenço Charles Marques CM Kim Chong Ae CA Horovitz Dafne Dain Gandelman DD Ribeiro Erlane Marques EM Valadares Eugênia Ribeiro ER Goulart Isabela I Neves de Souza Isabel C IC da Costa Neri João Ivanildo JI Santana-da-Silva Luiz Carlos LC Silva Luiz Roberto LR Ribeiro Márcia M de Oliveira Sobrinho Ruy Pires RP Giugliani Roberto R Schwartz Ida Vanessa Doederlein IV
Genetics and molecular biology 20130228 1
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-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 patien ...[more]