{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T22:31:17Z","timestamp":1782513077035,"version":"3.54.5"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T00:00:00Z","timestamp":1748822400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T00:00:00Z","timestamp":1748822400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional, INAGEMP","award":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"],"award-info":[{"award-number":["CNPq #465549\/2014-4 - CAPES #88887.136366\/2017-00 - FAPERGS #17\/2551-0000521-0"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"DOI":"10.1007\/s12687-025-00805-3","type":"journal-article","created":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T20:00:38Z","timestamp":1748808038000},"page":"439-444","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases"],"prefix":"10.1007","volume":"16","author":[{"given":"Franciele Barbosa","family":"Trapp","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiane","family":"Michelin-Tirelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Layzon Antonio Lemos","family":"da Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle Dineck","family":"Iop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"Bender-Pasetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Medeiros","family":"Sebasti\u00e3o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inamara","family":"da Silva Moraes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franciele F\u00e1tima","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osmar Rachor Toledo","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"da Rosa Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laysla Pedelhes","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrius Anselmi","family":"Luiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cleiton Amaral","family":"da Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen Daniela Piccoli","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice Brinckmann Oliveira","family":"Netto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina Serpa","family":"Brasil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Leistner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina","family":"Brusius-Facchin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Deon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel Eduardo Santiago","family":"Civallero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,2]]},"reference":[{"key":"805_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/s13023-021-02168-7","volume":"17","author":"J de Dios Garc\u00eda-D\u00edaz","year":"2022","unstructured":"de Dios Garc\u00eda-D\u00edaz J, L\u00f3pez-Rodr\u00edguez M, Morales-Conejo M et al (2022) Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals. Orphanet J Rare Dis 17:17. https:\/\/doi.org\/10.1186\/s13023-021-02168-7","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"805_CR2","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1002\/ajmg.a.61456","volume":"182","author":"A Federhen","year":"2020","unstructured":"Federhen A, Pasqualim G, de Freitas TF, Gonzalez EA, Trapp F, Matte U, Giugliani R (2020) Estimated birth prevalence of mucopolysaccharidoses in Brazil. Am J Med Genet A 182(3):469\u2013483. https:\/\/doi.org\/10.1002\/ajmg.a.61456","journal-title":"Am J Med Genet A"},{"issue":"3","key":"805_CR3","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1186\/1479-7364-5-3-156","volume":"5","author":"M Filocamo","year":"2011","unstructured":"Filocamo M, Morrone A (2011) Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics 5(3):156\u2013169. https:\/\/doi.org\/10.1186\/1479-7364-5-3-156","journal-title":"Hum Genomics"},{"issue":"1","key":"805_CR4","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1186\/s13023-016-0458-3","volume":"11","author":"R Giugliani","year":"2016","unstructured":"Giugliani R, Vairo FP, Riegel M, de Souza CF, Schwartz IV, Pena SD (2016) Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism. Orphanet J Rare Dis 11(1):76. https:\/\/doi.org\/10.1186\/s13023-016-0458-3","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"805_CR5","doi-asserted-by":"publisher","first-page":"e20200138","DOI":"10.1590\/1678-4685-GMB-2020-0138","volume":"44","author":"JA Josahkian","year":"2021","unstructured":"Josahkian JA, Trapp FB, Burin MG, Michelin-Tirelli K, Magalh\u00e3es APPS, Sebasti\u00e3o FM, Bender F, Mari JF, Brusius-Facchin AC, Leistner-Segal S, M\u00e1laga DR, Giugliani R (2021) Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions. Genet Mol Biol 44(1):e20200138. https:\/\/doi.org\/10.1590\/1678-4685-GMB-2020-0138","journal-title":"Genet Mol Biol"},{"issue":"2","key":"805_CR6","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.beem.2014.08.004","volume":"29","author":"SD Kingma","year":"2015","unstructured":"Kingma SD, Bodamer OA, Wijburg FA (2015) Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab 29(2):145\u2013157. https:\/\/doi.org\/10.1016\/j.beem.2014.08.004","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"3","key":"805_CR7","doi-asserted-by":"publisher","first-page":"39","DOI":"10.3390\/ijns8030039","volume":"8","author":"F Kubaski","year":"2022","unstructured":"Kubaski F, Burlina A, Polo G, Pereira D, Herbst ZM, Silva C, Trapp FB, Michelin-Tirelli K, Lopes FF, Burin MG, Brusius-Facchin AC, Netto ABO, Faqueti L, Iop GD, Poletto E, Giugliani R (2022) Experience of the NPC Brazil Network with a comprehensive program for the screening and diagnosis of niemann-pick disease type C. Int J Neonatal Screen 8(3):39. https:\/\/doi.org\/10.3390\/ijns8030039","journal-title":"Int J Neonatal Screen"},{"issue":"1","key":"805_CR8","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","volume":"4","author":"FM Platt","year":"2018","unstructured":"Platt FM, d\u2019Azzo A, Davidson BL, Neufeld EF, Tifft CJ (2018) Lysosomal storage diseases. Nat Rev Dis Prim 4(1):27. https:\/\/doi.org\/10.1038\/s41572-018-0025-4","journal-title":"Nat Rev Dis Prim"},{"issue":"1 suppl 1","key":"805_CR9","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1590\/1678-4685-GMB-2018-0214","volume":"42","author":"TA Vieira","year":"2019","unstructured":"Vieira TA, Trapp FB, Souza CFM, Faccini LS, Jardim LB, Schwartz IVD, Riegel M, Vargas CR, Burin MG, Leistner-Segal S, Ashton-Prolla P, Giugliani R (2019) Information and diagnosis networks - tools to improve diagnosis and treatment for patients with rare genetic diseases. Genet Mol Biol 42(1 suppl 1):155\u2013164. https:\/\/doi.org\/10.1590\/1678-4685-GMB-2018-0214","journal-title":"Genet Mol Biol"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-025-00805-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-025-00805-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-025-00805-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T13:02:38Z","timestamp":1754398958000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-025-00805-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,2]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["805"],"URL":"https:\/\/doi.org\/10.1007\/s12687-025-00805-3","relation":{},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,2]]},"assertion":[{"value":"2 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 June 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}]}}