Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2010 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/11878 |
Resumo: | Rede MPS Brasil. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil. |
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Giugliani, RobertoFederhen, AndressaRojas, Maria Verônica MuñozVieira, TaianeArtigalás, OsvaldoPinto, Louise LapagesseAzevedo, Ana CecíliaAcosta, AngelinaBonfim, CarmenLourenço, Charles MarquesKim, Chong AeHorovitz, Dafne Dain GandelmanBonfim, DenizeNorato, DeniseMarinho, DianePalhares, DurvalSantos, Emerson SantanaRibeiro, ErlaneValadares, EugêniaGuarany, FábioLucca, Gisele Rosone dePimentel, HelenaSouza, Isabel Neves deNeto, Jordão CorreaFraga, José CarlosGoes, José EduardoCabral, José MariaSimionato, JoséLlerena Junior, Juan ClintonJardim, LauraGiuliani, LianeSilva, Luiz Carlos Santana daSantos, Mara L.Moreira, Maria AngelaKerstenetzky, MarceloRibeiro, MárciaRuas, NicoleBarrios, PatriciaAranda, PauloHonjo, RachelBoy, RaquelCosta, RonaldoSouza, CarolinaAlcantara, Flavio F.Avilla, Silvio Gilberto A.Fagondes, SimoneMartins, Ana Maria2015-10-06T11:59:37Z2015-10-06T11:59:37Z2010GIUGLIANI, Roberto et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology, Ribeirão Preto, v. 33, n. 4, p. 589-604, 2010.1678-4685https://www.arca.fiocruz.br/handle/icict/1187810.1590/S1415-47572010005000093engSociedade Brasileira de GenéticaMucopolysaccharidosis I, II, and VI brief review and guidelines for treatmentinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleRede MPS Brasil. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Rede MPS Brasil. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Grupo Hospitalar Conceição. Porto Alegre, RS, Brasil.Rede MPS Brasil. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Universidade Federal da Bahia. Salvador, BA, Brasil.Universidade Federal do Paraná. Hospital das Clínicas. Curitiba, PR, Brasil.Universidade de São Paulo. Escola de Medicina de Ribeirão Preto. Ribeirão Preto, SP, Brasil.Universidade de São Paulo. Hospital de Clínicas. Instituto da Criança. São Paulo, SP, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Universidade de Brasília. Hospital Universitário. Brasília, DF, Brasil.Pontifícia Universidade Católicade Campinas. Campinas, SP, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Oftalmologia. Porto Alegre, RS, Brasil.Universidade Federal do Mato Grosso do Sul. Campo Grande, MS, Brasil.Universidade Estadual de Ciências da Saúde. Maceió, AL, Brasil.Hospital Geral Albert Sabin. Fortaleza, CE, Brasil.Universidade Federal de Minas Gerais. Escola de Medicina. Belo Horizonte, MG, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Fisiatria e Reabilitação. Porto Alegre, RS, Brasil.Hospital Infantil Joana de Gusmão. Florianópolis, SC, Brasil.Associação de Pais e Amigos dos Excepcionais. Salvador, BA, Brasil.Universidade Federal do Pará. Belém, PA, Brasil.Pontifícia Universidade Católica de Campinas. Campinas, SP, Brasil.Universidade Federal do Rio Grande do Sul. Faculdade de Medicina. Porto Alegre, RS, Brasil.Hospital Infantil Joana de Gusmão. Florianópolis, SC, Brasil.Universidade Federal do Amazonas. Manaus, AM, Brasil.Hospital Infantil. Belo Horizonte, MG, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Universidade Federal do Mato Grosso do Sul. Departamento de Pediatria. Campo Grande, MS, Brasil.Universidade Federal do Pará. Belém, PA, Brasil.Hospital Infantil Pequeno Príncipe. Curitiba, PR, Brasil.Hospital de Clínicas. Unidade de Fisiologia Pulmonar. Porto Alegre, RS, Brasil.Hospital da Restauração. Recife, PE, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Pediatria de Puericultura Martagão Gesteira. Rio de Janeiro, RJ, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Fisiatria e Reabilitação. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Cardiologia. Cardiologista Infantil. Porto Alegre, RS, Brasil.Hospital Evangélico. Londrina, PR, Brasil.Universidade de São Paulo. Hospital de Clínicas. Instituto da Criança. São Paulo, SP, Brasil.Universidade Estadual do Rio de Janeiro. Rio de Janeiro, RJ, Brazil.Hospital de Clínicas de Porto Alegre. Serviço de Anestesiologia e Medicina Perioperativa. Porto Alegre, RS, Brasil.Sociedade Brasileira de Genética Médica. São Paulo, SP, Brasil.Sociedade Brasileira de Patologia Clínica. Medicina Laboratorial. Rio de Janeiro, RJ, Brasil.Associação Brasileira de Cirurgia Pediátrica. São Paulo, SP, Brasil.Sociedade Brasileira de Pneumologia e Tisiologia. Brasília, DF, Brasil.Universidade Federal de São Paulo. Departamento de Pediatria. São Paulo, SP, Brasil.Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.MucopolisaccharidosesHurler SyndromeHunter SyndromeMaroteaux-Lamy SyndromeEnzyme Replacement TherapyTreatment GuidelinesMucopolissacaridose IPicnodisostoseTerapia de Reposição de EnzimasTerapêuticainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82354https://www.arca.fiocruz.br/bitstream/icict/11878/1/license.txt8b4c200b4e10021c5683c6ccaba07169MD51ORIGINALMucopolysaccharidosis I, II, and VI Brief review and guidelines for treatment.pdfMucopolysaccharidosis I, II, and VI Brief review and guidelines for treatment.pdfapplication/pdf140337https://www.arca.fiocruz.br/bitstream/icict/11878/2/Mucopolysaccharidosis%20I%2c%20II%2c%20and%20VI%20Brief%20review%20and%20guidelines%20for%20treatment.pdf8178891b23f375cc4f7fd8a9dca6b4aeMD52TEXTMucopolysaccharidosis I, II, and VI Brief review and guidelines for treatment.pdf.txtMucopolysaccharidosis I, II, and VI Brief review and guidelines for treatment.pdf.txtExtracted texttext/plain88707https://www.arca.fiocruz.br/bitstream/icict/11878/3/Mucopolysaccharidosis%20I%2c%20II%2c%20and%20VI%20Brief%20review%20and%20guidelines%20for%20treatment.pdf.txtdbc6572bb304f5b437d0999bb24530b1MD53icict/118782020-05-12 13:37:26.197oai:www.arca.fiocruz.br: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Repositório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352020-05-12T16:37:26Repositório Institucional da FIOCRUZ (ARCA) - 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| dc.title.pt_BR.fl_str_mv |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment |
| title |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment |
| spellingShingle |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment Giugliani, Roberto Mucopolisaccharidoses Hurler Syndrome Hunter Syndrome Maroteaux-Lamy Syndrome Enzyme Replacement Therapy Treatment Guidelines Mucopolissacaridose I Picnodisostose Terapia de Reposição de Enzimas Terapêutica |
| title_short |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment |
| title_full |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment |
| title_fullStr |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment |
| title_full_unstemmed |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment |
| title_sort |
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment |
| author |
Giugliani, Roberto |
| author_facet |
Giugliani, Roberto Federhen, Andressa Rojas, Maria Verônica Muñoz Vieira, Taiane Artigalás, Osvaldo Pinto, Louise Lapagesse Azevedo, Ana Cecília Acosta, Angelina Bonfim, Carmen Lourenço, Charles Marques Kim, Chong Ae Horovitz, Dafne Dain Gandelman Bonfim, Denize Norato, Denise Marinho, Diane Palhares, Durval Santos, Emerson Santana Ribeiro, Erlane Valadares, Eugênia Guarany, Fábio Lucca, Gisele Rosone de Pimentel, Helena Souza, Isabel Neves de Neto, Jordão Correa Fraga, José Carlos Goes, José Eduardo Cabral, José Maria Simionato, José Llerena Junior, Juan Clinton Jardim, Laura Giuliani, Liane Silva, Luiz Carlos Santana da Santos, Mara L. Moreira, Maria Angela Kerstenetzky, Marcelo Ribeiro, Márcia Ruas, Nicole Barrios, Patricia Aranda, Paulo Honjo, Rachel Boy, Raquel Costa, Ronaldo Souza, Carolina Alcantara, Flavio F. Avilla, Silvio Gilberto A. Fagondes, Simone Martins, Ana Maria |
| author_role |
author |
| author2 |
Federhen, Andressa Rojas, Maria Verônica Muñoz Vieira, Taiane Artigalás, Osvaldo Pinto, Louise Lapagesse Azevedo, Ana Cecília Acosta, Angelina Bonfim, Carmen Lourenço, Charles Marques Kim, Chong Ae Horovitz, Dafne Dain Gandelman Bonfim, Denize Norato, Denise Marinho, Diane Palhares, Durval Santos, Emerson Santana Ribeiro, Erlane Valadares, Eugênia Guarany, Fábio Lucca, Gisele Rosone de Pimentel, Helena Souza, Isabel Neves de Neto, Jordão Correa Fraga, José Carlos Goes, José Eduardo Cabral, José Maria Simionato, José Llerena Junior, Juan Clinton Jardim, Laura Giuliani, Liane Silva, Luiz Carlos Santana da Santos, Mara L. Moreira, Maria Angela Kerstenetzky, Marcelo Ribeiro, Márcia Ruas, Nicole Barrios, Patricia Aranda, Paulo Honjo, Rachel Boy, Raquel Costa, Ronaldo Souza, Carolina Alcantara, Flavio F. Avilla, Silvio Gilberto A. Fagondes, Simone Martins, Ana Maria |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Giugliani, Roberto Federhen, Andressa Rojas, Maria Verônica Muñoz Vieira, Taiane Artigalás, Osvaldo Pinto, Louise Lapagesse Azevedo, Ana Cecília Acosta, Angelina Bonfim, Carmen Lourenço, Charles Marques Kim, Chong Ae Horovitz, Dafne Dain Gandelman Bonfim, Denize Norato, Denise Marinho, Diane Palhares, Durval Santos, Emerson Santana Ribeiro, Erlane Valadares, Eugênia Guarany, Fábio Lucca, Gisele Rosone de Pimentel, Helena Souza, Isabel Neves de Neto, Jordão Correa Fraga, José Carlos Goes, José Eduardo Cabral, José Maria Simionato, José Llerena Junior, Juan Clinton Jardim, Laura Giuliani, Liane Silva, Luiz Carlos Santana da Santos, Mara L. Moreira, Maria Angela Kerstenetzky, Marcelo Ribeiro, Márcia Ruas, Nicole Barrios, Patricia Aranda, Paulo Honjo, Rachel Boy, Raquel Costa, Ronaldo Souza, Carolina Alcantara, Flavio F. Avilla, Silvio Gilberto A. Fagondes, Simone Martins, Ana Maria |
| dc.subject.en.pt_BR.fl_str_mv |
Mucopolisaccharidoses Hurler Syndrome Hunter Syndrome Maroteaux-Lamy Syndrome Enzyme Replacement Therapy Treatment Guidelines |
| topic |
Mucopolisaccharidoses Hurler Syndrome Hunter Syndrome Maroteaux-Lamy Syndrome Enzyme Replacement Therapy Treatment Guidelines Mucopolissacaridose I Picnodisostose Terapia de Reposição de Enzimas Terapêutica |
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Mucopolissacaridose I Picnodisostose Terapia de Reposição de Enzimas Terapêutica |
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Rede MPS Brasil. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil. |
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2010 |
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2010 |
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2015-10-06T11:59:37Z |
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2015-10-06T11:59:37Z |
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GIUGLIANI, Roberto et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology, Ribeirão Preto, v. 33, n. 4, p. 589-604, 2010. |
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https://www.arca.fiocruz.br/handle/icict/11878 |
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1678-4685 |
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10.1590/S1415-47572010005000093 |
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GIUGLIANI, Roberto et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology, Ribeirão Preto, v. 33, n. 4, p. 589-604, 2010. 1678-4685 10.1590/S1415-47572010005000093 |
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