{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:50Z","timestamp":1786976870392,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T00:00:00Z","timestamp":1637539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N\u2010acetyl\u2010alpha\u2010\n                    <jats:sc>d<\/jats:sc>\n                    \u2010glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the\n                    <jats:italic>NAGLU<\/jats:italic>\n                    gene, which leads to storage of heparan sulfate and a series of clinical consequences which hallmark is neurodegeneration. In this study clinical, epidemiological, and biochemical data were obtained from MPS IIIB patients diagnosed from 2004\u20132019 by the MPS Brazil Network (\u201cRede MPS Brasil\u201d), which was created with the goal to provide an easily accessible and comprehensive investigation of all MPS types. One hundred and ten MPS IIIB patients were diagnosed during this period. Mean age at diagnosis was 10.9\u2009years. Patients were from all over Brazil, with a few from abroad, with a possible cluster of MPS IIIB identified in Ecuador. All patients had increased urinary levels of glycosaminoglycans and low NAGLU activity in blood. Main clinical symptoms reported at diagnosis were coarse facies and neurocognitive regression. The most common variant was p.Leu496Pro (30% of alleles). MPS IIIB seems to be relatively frequent in Brazil, but patients are diagnosed later than in other countries, and reasons for that probably include the limited awareness about the disease by health professionals and the difficulties to access diagnostic tests, factors that the MPS Brazil Network is trying to mitigate.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62572","type":"journal-article","created":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T08:06:44Z","timestamp":1637568404000},"page":"760-767","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Sanfilippo syndrome type B: Analysis of patients diagnosed by the\n                    <scp>MPS<\/scp>\n                    Brazil Network"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0684-1818","authenticated-orcid":false,"given":"Yorran Hardman Ara\u00fajo","family":"Montenegro","sequence":"first","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"},{"name":"Post\u2010graduate Program in Genetics and Molecular Biology Department of Genetics\/UFRGS  Porto Alegre Brazil"},{"name":"INAGEMP  Porto Alegre Brazil"},{"name":"MPS Brazil Network Medical Genetics Service, HCPA  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7280-6260","authenticated-orcid":false,"given":"Carolina Fischinger Moura","family":"de Souza","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9330-0154","authenticated-orcid":false,"given":"Francyne","family":"Kubaski","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de 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