{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:58:05Z","timestamp":1781650685670,"version":"3.54.5"},"reference-count":49,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T00:00:00Z","timestamp":1605225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"FIPE-HCPA","award":["17-0445"],"award-info":[{"award-number":["17-0445"]}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["465549\/2014-4"],"award-info":[{"award-number":["465549\/2014-4"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["88887.136366\/2017-00"],"award-info":[{"award-number":["88887.136366\/2017-00"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004263","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio Grande do Sul","doi-asserted-by":"publisher","award":["17\/2551-0000521-0"],"award-info":[{"award-number":["17\/2551-0000521-0"]}],"id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current natural history of this group of diseases, and leading to a better outcome for the affected patients.<\/jats:p>","DOI":"10.3390\/ijns6040090","type":"journal-article","created":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T10:32:47Z","timestamp":1605263567000},"page":"90","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives"],"prefix":"10.3390","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9330-0154","authenticated-orcid":false,"given":"Francyne","family":"Kubaski","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil"},{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil"},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional (iNaGeMP), Porto Alegre 90035-003, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas","family":"Sousa","sequence":"additional","affiliation":[{"name":"Associa\u00e7\u00e3o de Pais e Amigos dos Excepcionais (APAE) Salvador, Salvador 41830-141, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Amorim","sequence":"additional","affiliation":[{"name":"Associa\u00e7\u00e3o de Pais e Amigos dos Excepcionais (APAE) Salvador, Salvador 41830-141, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danilo","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Research and Innovation, Innovatox, S\u00e3o Paulo 06455-020, 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-137X","authenticated-orcid":false,"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina","family":"Brusius-Facchin","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7888-8327","authenticated-orcid":false,"given":"Alice Brinckmann Oliveira","family":"Netto","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil"},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional (iNaGeMP), Porto Alegre 90035-003, Brazil"},{"name":"Department of Biological Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0673-2160","authenticated-orcid":false,"given":"Shunji","family":"Tomatsu","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Biomedical, Nemours\/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90040-060, Brazil"},{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil"},{"name":"Instituto Nacional de Gen\u00e9tica 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