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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | GIUGLIANI, Roberto | - |
dc.contributor.author | FAINBOIM, Alejandro | - |
dc.contributor.author | KIM, Chong Ae | - |
dc.contributor.author | HOROVITZ, Dafne Dain Gandelman | - |
dc.contributor.author | SAKATA, Edna Tiemi | - |
dc.contributor.author | DAMIANO, Ana Paula | - |
dc.contributor.author | MAGALHÃES, Tatiana Sá Pacheco Carneiro | - |
dc.contributor.author | VILLAREAL, Martha Solano | - |
dc.date.accessioned | 2019-08-22T15:22:25Z | - |
dc.date.available | 2019-08-22T15:22:25Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING, v.7, p.e20190004, 2019 | - |
dc.identifier.issn | 2326-4594 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/33362 | - |
dc.description.abstract | Abstract Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in quality of life in patients with MPS. Professionals with extensive experience in the care of patients with inborn errors of metabolism, such as MPS, held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of quality of life in MPS patients in Latin America. In the light of this scenario, the present work summarizes the content of the discussions and presents the recommendations produced at the meeting. The panel had suggested the use of the following tools for the assessment of health-related quality of life (HRQoL): Children's Health Assessment Questionnaire (CHAQ) for children and patients unable to express their feelings, Health Assessments Questionnaire (HAQ) and EuroQol 5 Domains (EQ-5D) scales for adult patients. Based on the scores verified in these scales, the panel proposes interventions that aim reducing the impairment of the quality of life in patients with MPS disorders. | eng |
dc.language.iso | eng | por |
dc.publisher | Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) | eng |
dc.relation.ispartof | Journal of Inborn Errors of Metabolism and Screening | - |
dc.rights | openAccess | eng |
dc.subject | lysosomal storage diseases | eng |
dc.subject | MPS | eng |
dc.subject | quality of life | eng |
dc.subject | ADL | eng |
dc.subject | cognition | eng |
dc.subject | mobility | eng |
dc.subject | pain | eng |
dc.title | Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America | eng |
dc.type | article | eng |
dc.rights.holder | Copyright Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) | eng |
dc.identifier.doi | 10.1590/2326-4594-jiems-2019-0004 | - |
dc.subject.wos | Genetics & Heredity | eng |
dc.type.category | original article | eng |
dc.type.version | publishedVersion | eng |
hcfmusp.author.external | GIUGLIANI, Roberto:Universidade Federal do Rio Grande do Sul, Brazil | - |
hcfmusp.author.external | FAINBOIM, Alejandro:Hospital de Niños Ricardo Gutiérrez, Argentina | - |
hcfmusp.author.external | HOROVITZ, Dafne Dain Gandelman:Fundação Oswaldo Cruz, Brazil | - |
hcfmusp.author.external | SAKATA, Edna Tiemi:Universidade Federal de São Paulo, Brazil | - |
hcfmusp.author.external | DAMIANO, Ana Paula:Pontifícia Universidade Católica de Campinas, Brazil; Universidade de Campinas, Brazil | - |
hcfmusp.author.external | MAGALHÃES, Tatiana Sá Pacheco Carneiro:Biomarin Pharmaceutical Inc, Brazil | - |
hcfmusp.author.external | VILLAREAL, Martha Solano:Universidad Nacional de Colombia, Colombia | - |
hcfmusp.description.beginpage | e20190004 | - |
hcfmusp.description.volume | 7 | - |
hcfmusp.origem | sciELO | - |
hcfmusp.origem.id | SCIELO:S2326-45942019000100305 | - |
hcfmusp.origem.id | 2-s2.0-85137858832 | - |
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dc.description.index | PubMed | eng |
hcfmusp.citation.scopus | 1 | - |
hcfmusp.scopus.lastupdate | 2024-04-12 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MPE Artigos e Materiais de Revistas Científicas - LIM/36 |
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art_GIUGLIANI_Recommendations_for_Assessment_and_Management_of_HealthRelated_Quality_2019.PDF | publishedVersion (English) | 190.82 kB | Adobe PDF | View/Open |
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