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dc.contributor.authorJosahkian, Juliana Alvespt_BR
dc.contributor.authorTrapp, Franciele Barbosapt_BR
dc.contributor.authorBurin, Maira Graeffpt_BR
dc.contributor.authorTirelli, Kristiane Michelinpt_BR
dc.contributor.authorMagalhães, Ana Paula Pereira Sholz dept_BR
dc.contributor.authorSebastião, Fernanda Medeirospt_BR
dc.contributor.authorBender, Fernandapt_BR
dc.contributor.authorDe Mari, Jurema de Fatimapt_BR
dc.contributor.authorFacchin, Ana Carolina Brusiuspt_BR
dc.contributor.authorLeistner-Segal, Sandrapt_BR
dc.contributor.authorMálaga, Diana Elizabeth Rojaspt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.date.accessioned2021-05-13T04:27:40Zpt_BR
dc.date.issued2021pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/220903pt_BR
dc.description.abstractThe mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a national reference laboratory and identified 1,652 patients. Using data between 1994 and 2018, the birth prevalence (by 100,000 live births) for MPS was 1.57. MPS II was the most common type of MPS in Brazil, and its birth prevalence was 0.48 (0.94 considering only male births). Regarding the number of cases per region, MPS II was the most frequent in the North and Center-West (followed by MPS VI), and also in the Southeast (followed by MPS I); MPS I and MPS II were the most common types in the South; and MPS VI was the most common in the Northeast (followed by MPS II). The differences observed in the relative frequencies of MPS types across Brazilian regions are likely linked to founder effect, endogamy, and consanguinity, but other factors may be present and need further investigation.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirão Preto. Vol. 44, n. 1 (2021), e20201387, 6 p.pt_BR
dc.rightsOpen Accessen
dc.subjectLysosomal storage diseasesen
dc.subjectPrevalênciapt_BR
dc.subjectNascimento vivopt_BR
dc.subjectMetabolic diseasesen
dc.subjectMucopolysaccharidosesen
dc.subjectMucopolissacaridosespt_BR
dc.subjectEpidemiologiapt_BR
dc.subjectEpidemiologyen
dc.subjectBrasilpt_BR
dc.subjectBrazilen
dc.titleUpdated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regionspt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001123201pt_BR
dc.type.originNacionalpt_BR


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