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dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorFederhen, Andressapt_BR
dc.contributor.authorMunõz Rojas, Maria Verônicapt_BR
dc.contributor.authorVieira, Taiane Alvespt_BR
dc.contributor.authorArtigalas, Osvaldo Alfonso Pintopt_BR
dc.contributor.authorPinto, Louise Lapagesse de Camargopt_BR
dc.contributor.authorAzevedo, Ana Cecília Medeiros Manopt_BR
dc.contributor.authorAcosta, Angelina Xavierpt_BR
dc.contributor.authorBonfim, Carmem Maria Salespt_BR
dc.contributor.authorLourenço, Charles Marquespt_BR
dc.contributor.authorKim, Chong Aept_BR
dc.contributor.authorHorovitz, Dafne Dain Gandelmanpt_BR
dc.contributor.authorBonfim, Denizept_BR
dc.contributor.authorNorato, Denise Y.J.pt_BR
dc.contributor.authorMarinho, Diane Ruschelpt_BR
dc.contributor.authorPalhares, Durvalpt_BR
dc.contributor.authorSantos, Emerson Santanapt_BR
dc.contributor.authorRibeiro, Erlane Marquespt_BR
dc.contributor.authorValadares, Eugênia Ribeiropt_BR
dc.contributor.authorGuarany, Fábio Coelhopt_BR
dc.contributor.authorLucca, Gisele Rosone dept_BR
dc.contributor.authorPimentel, Helenapt_BR
dc.contributor.authorSouza, Isabel Neves dept_BR
dc.contributor.authorCorrêa Neto, Jordãopt_BR
dc.contributor.authorFraga, José Carlos Soares dept_BR
dc.contributor.authorGóes, José Eduardo Coutinhopt_BR
dc.contributor.authorCabral, José Mariapt_BR
dc.contributor.authorSimionato, Josépt_BR
dc.contributor.authorLlerena Junior, Juan Clintonpt_BR
dc.contributor.authorJardim, Laura Bannachpt_BR
dc.contributor.authorGiuliani, Liane de Rossopt_BR
dc.contributor.authorSilva, Luiz Carlos Santana dapt_BR
dc.contributor.authorSantos, Mara Lúcia Ferreirapt_BR
dc.contributor.authorMoreira, Maria Ângela Fontourapt_BR
dc.contributor.authorKerstenetzky, Marcelopt_BR
dc.contributor.authorRibeiro, Márcia Gonçalvespt_BR
dc.contributor.authorRuas, Nicolept_BR
dc.contributor.authorBarrios, Patricia Martins Mourapt_BR
dc.contributor.authorAranda, Paulo Cesarpt_BR
dc.contributor.authorHonjo, Raquel S.pt_BR
dc.contributor.authorBoy, Raquelpt_BR
dc.contributor.authorCosta, Ronaldo David dapt_BR
dc.contributor.authorSouza, Carolina Fischinger Moura dept_BR
dc.contributor.authorAlcântara, Flavio F.pt_BR
dc.contributor.authorAvilla, Sylvio Gilberto A.pt_BR
dc.contributor.authorFagondes, Simone Chavespt_BR
dc.contributor.authorMartins, Ana Maria (Medicina)pt_BR
dc.date.accessioned2011-11-11T01:19:18Zpt_BR
dc.date.issued2010pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/34295pt_BR
dc.description.abstractMucopolysaccharidoses (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.en
dc.format.mimetypeapplication/pdf
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirao Preto. Vol. 33, no. 4 (2010), p. 589-604pt_BR
dc.rightsOpen Accessen
dc.subjectMucopolisaccharidosesen
dc.subjectMucopolissacaridose Ipt_BR
dc.subjectMucopolissacaridose IIpt_BR
dc.subjectHurler syndromeen
dc.subjectMucopolissacaridose VIpt_BR
dc.subjectHunter syndromeen
dc.subjectMaroteaux-lamy syndromeen
dc.subjectEnzyme replacement therapyen
dc.subjectTreatment guidelinesen
dc.titleMucopolysaccharidosis I, II, and VI : brief review and guidelines for treatmentpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000786718pt_BR
dc.type.originNacionalpt_BR


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