| Author | Llerena Junior, Juan Clinton | |
| Author | Horovitz, Dafne Maria | |
| Author | Marie, Suely Kazue Nagahashi | |
| Author | Porta, Gilda | |
| Author | Giugliani, Roberto | |
| Author | Rojas, Maria Verónica Muñoz | |
| Author | Martins, Ana Maria | |
| Access date | 2013-07-22T15:33:01Z | |
| Available date | 2013-07-22T15:33:01Z | |
| Document date | 2009 | |
| Citation | LLERENA JUNIOR, Juan C. et al. The brazilian consensus on the management of pompe disease. The Journal of Pediatric, St. Louis, v. 155, n. 4, p. S47-56, Oct. 2009. Suplemento. | pt_BR |
| ISSN | 0022-3476 | |
| URI | https://www.arca.fiocruz.br/handle/icict/6712 | |
| Language | eng | pt_BR |
| Publisher | Mosby | pt_BR |
| Rights | open access | |
| Title | The Brazilian consensus on the management of pompe disease | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.1016/j.jpeds.2009.07.006 | |
| Abstract | The Brazilian Consensus on the Management of Pompe Disease was established through collaboration of all Brazilian physicians known to be treating patients with Pompe disease (PD) in Brazil. It was based on the clinical presentation of 7 cases of early-onset PD (EOPD) and 18 cases of late-onset PD (LOPD) presented to a working group in the city of Rio de Janeiro in 2007. Coordinated by the Brazilian Network for Studies in PD (ReBrPOM) with key objectives of enhancing understanding of the clinical heterogeneity, progression, and natural history of this severe and lethal genetic disease, as well as providing an overview of the Brazilian experience with enzyme replacement therapy with recombinant human acid alpha glucosidase (rhGAA; Myozyme; Genzyme, Cambridge, Massachusetts). This is not an exhaustive investigation of the issue, but rather preliminary guidelines to optimize the management of these patients under the care of the Brazilian public health care system (SUS-Brasil). | |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Neurologia. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade de São Paulo. Faculdade de Medicina. Departamento de Pediatria. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital das Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Universidade Federal de São Paulo. Centro de Referência em Erros Inatos do Metabolismo. São Paulo, SP, Brasil. | pt_BR |
| Subject | Pompe Disease | |
| Subject | Brazilian Consensus | |
| Subject | Patients | |
| DeCS | Doença de Depósito de Glicogênio Tipo II | pt_BR |
| DeCS | Terapia | pt_BR |
| DeCS | Guias de Prática Clínica como Assunto | pt_BR |
