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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorGIUGLIANI, Roberto
dc.contributor.authorFAINBOIM, Alejandro
dc.contributor.authorKIM, Chong Ae
dc.contributor.authorHOROVITZ, Dafne Dain Gandelman
dc.contributor.authorSAKATA, Edna Tiemi
dc.contributor.authorDAMIANO, Ana Paula
dc.contributor.authorMAGALHÃES, Tatiana Sá Pacheco Carneiro
dc.contributor.authorVILLAREAL, Martha Solano
dc.date.accessioned2019-08-22T15:22:25Z-
dc.date.available2019-08-22T15:22:25Z-
dc.date.issued2019
dc.identifier.citationJOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING, v.7, p.e20190004, 2019
dc.identifier.issn2326-4594
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/33362-
dc.description.abstractAbstract 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.isoengpor
dc.publisherLatin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)eng
dc.relation.ispartofJournal of Inborn Errors of Metabolism and Screening
dc.rightsopenAccesseng
dc.subjectlysosomal storage diseaseseng
dc.subjectMPSeng
dc.subjectquality of lifeeng
dc.subjectADLeng
dc.subjectcognitioneng
dc.subjectmobilityeng
dc.subjectpaineng
dc.titleRecommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin Americaeng
dc.typearticleeng
dc.rights.holderCopyright Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)eng
dc.identifier.doi10.1590/2326-4594-jiems-2019-0004
dc.subject.wosGenetics & Heredityeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
hcfmusp.author.externalGIUGLIANI, Roberto:Universidade Federal do Rio Grande do Sul, Brazil
hcfmusp.author.externalFAINBOIM, Alejandro:Hospital de Niños Ricardo Gutiérrez, Argentina
hcfmusp.author.externalHOROVITZ, Dafne Dain Gandelman:Fundação Oswaldo Cruz, Brazil
hcfmusp.author.externalSAKATA, Edna Tiemi:Universidade Federal de São Paulo, Brazil
hcfmusp.author.externalDAMIANO, Ana Paula:Pontifícia Universidade Católica de Campinas, Brazil; Universidade de Campinas, Brazil
hcfmusp.author.externalMAGALHÃES, Tatiana Sá Pacheco Carneiro:Biomarin Pharmaceutical Inc, Brazil
hcfmusp.author.externalVILLAREAL, Martha Solano:Universidad Nacional de Colombia, Colombia
hcfmusp.description.beginpagee20190004
hcfmusp.description.volume7
hcfmusp.origemsciELO
hcfmusp.origem.idSCIELO:S2326-45942019000100305
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Artigos e Materiais de Revistas Científicas - FM/MPE
Departamento de Pediatria - FM/MPE

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica


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