Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Detalhes bibliográficos
Autor(a) principal: Giugliani, Roberto
Data de Publicação: 2010
Outros Autores: Federhen, Andressa, Rojas, Maria Verônica Muñoz, Acosta, Angelina Xavier, Bonfim, Carmen, Lourenço, Charles Marques, Pimentel, Helena
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/13505
Resumo: p.589-604
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spelling Giugliani, RobertoFederhen, AndressaRojas, Maria Verônica MuñozAcosta, Angelina XavierBonfim, CarmenLourenço, Charles MarquesPimentel, HelenaGiugliani, RobertoFederhen, AndressaRojas, Maria Verônica MuñozAcosta, Angelina XavierBonfim, CarmenLourenço, Charles MarquesPimentel, Helena2013-11-01T19:51:31Z2013-11-01T19:51:31Z2010Genetics and Molecular Biologyhttp://repositorio.ufba.br/ri/handle/ri/13505v. 33, n. 4p.589-604Mucopolysaccharidoses (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.Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-07-15T14:24:16Z No. of bitstreams: 1 2010-050.pdf: 140337 bytes, checksum: 8178891b23f375cc4f7fd8a9dca6b4ae (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-01T19:51:30Z (GMT) No. of bitstreams: 1 2010-050.pdf: 140337 bytes, checksum: 8178891b23f375cc4f7fd8a9dca6b4ae (MD5)Made available in DSpace on 2013-11-01T19:51:31Z (GMT). No. of bitstreams: 1 2010-050.pdf: 140337 bytes, checksum: 8178891b23f375cc4f7fd8a9dca6b4ae (MD5) Previous issue date: 2010http://dx.doi.org/10.1590/S1415-47572010005000093reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAMucopolisaccharidosesHurler syndromeHunter syndromeMaroteaux-Lamy syndromeEnzyme replacement therapyTreatment guidelinesMucopolysaccharidosis I, II, and VI: brief review and guidelines for treatmentGenetics and Molecular Biologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleenginfo:eu-repo/semantics/openAccessORIGINAL2010-050.pdf2010-050.pdfapplication/pdf140337https://repositorio.ufba.br/bitstream/ri/13505/1/2010-050.pdf8178891b23f375cc4f7fd8a9dca6b4aeMD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/13505/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXT2010-050.pdf.txt2010-050.pdf.txtExtracted texttext/plain88711https://repositorio.ufba.br/bitstream/ri/13505/3/2010-050.pdf.txt871da02abb360b44b0993612e641f8deMD53ri/135052022-07-05 14:03:42.603oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:42Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
dc.title.alternative.pt_BR.fl_str_mv Genetics and Molecular Biology
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
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
Acosta, Angelina Xavier
Bonfim, Carmen
Lourenço, Charles Marques
Pimentel, Helena
author_role author
author2 Federhen, Andressa
Rojas, Maria Verônica Muñoz
Acosta, Angelina Xavier
Bonfim, Carmen
Lourenço, Charles Marques
Pimentel, Helena
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Giugliani, Roberto
Federhen, Andressa
Rojas, Maria Verônica Muñoz
Acosta, Angelina Xavier
Bonfim, Carmen
Lourenço, Charles Marques
Pimentel, Helena
Giugliani, Roberto
Federhen, Andressa
Rojas, Maria Verônica Muñoz
Acosta, Angelina Xavier
Bonfim, Carmen
Lourenço, Charles Marques
Pimentel, Helena
dc.subject.por.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
description p.589-604
publishDate 2010
dc.date.issued.fl_str_mv 2010
dc.date.accessioned.fl_str_mv 2013-11-01T19:51:31Z
dc.date.available.fl_str_mv 2013-11-01T19:51:31Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/13505
dc.identifier.issn.none.fl_str_mv Genetics and Molecular Biology
dc.identifier.number.pt_BR.fl_str_mv v. 33, n. 4
identifier_str_mv Genetics and Molecular Biology
v. 33, n. 4
url http://repositorio.ufba.br/ri/handle/ri/13505
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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