{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:07:58Z","timestamp":1789171678947,"version":"build-2803163510"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T00:00:00Z","timestamp":1785715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004325","name":"AstraZeneca PLC","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004325","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ejmg.2026.105100","type":"journal-article","created":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T23:22:02Z","timestamp":1785885722000},"page":"105100","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Neurofibromatosis type 1 in Brazil: Pediatric care in the Unified Health System"],"prefix":"10.1016","volume":"83","author":[{"given":"Viviane","family":"Sonaglio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Oigman Bellas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliana Maria Monteiro","family":"Caran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina Buzzo de Lima","family":"Decario","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaury Pinfildi de Freitas","family":"Bunho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio","family":"Longato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1836-8756","authenticated-orcid":false,"given":"Guilherme","family":"Cordeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz Guilherme Darrigo","family":"Junior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Geller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2026.105100_bib1","series-title":"Statpearls [Internet]","article-title":"Neurofibromatosis type 1","author":"Adil","year":"2025"},{"key":"10.1016\/j.ejmg.2026.105100_bib2","series-title":"Bula \u2013 KOSELUGO","year":"2024"},{"issue":"13","key":"10.1016\/j.ejmg.2026.105100_bib3","first-page":"50","article-title":"Possibilidades e limita\u00e7\u00f5es de uso das bases de dados do DATASUS no controle externo de pol\u00edticas p\u00fablicas de sa\u00fade no Brasil","volume":"2","author":"Barbosa","year":"2019","journal-title":"Colet\u00e2nea de P\u00f3s-Gradua\u00e7\u00e3o"},{"issue":"4","key":"10.1016\/j.ejmg.2026.105100_bib4","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.abd.2023.08.011","article-title":"Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study","volume":"99","author":"Bicudo","year":"2024","journal-title":"An. Bras. Dermatol."},{"key":"10.1016\/j.ejmg.2026.105100_bib5","article-title":"Portaria n\u00b0 199, de 30 de janeiro de 2014","year":"2014","journal-title":"Bras\u00edlia: Minist\u00e9rio da Sa\u00fade"},{"key":"10.1016\/j.ejmg.2026.105100_bib6","article-title":"DATASUS \u2013 Acesso \u00e0 Informa\u00e7\u00e3o","year":"2024","journal-title":"Bras\u00edlia: Minist\u00e9rio da Sa\u00fade"},{"key":"10.1016\/j.ejmg.2026.105100_bib7","year":"2025","journal-title":"Bras\u00edlia: Minist\u00e9rio da Sa\u00fade"},{"key":"10.1016\/j.ejmg.2026.105100_bib8","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2022.101818","article-title":"ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1","volume":"56","author":"Carton","year":"2023","journal-title":"EClinicalMedicine"},{"issue":"7","key":"10.1016\/j.ejmg.2026.105100_bib9","first-page":"425","article-title":"The role of real-world evidence for the study of rare diseases epidemiology and the post-marketing evaluation of orphan drugs","volume":"113","author":"Crisafulli","year":"2022","journal-title":"Recent. Progress. Med."},{"issue":"6","key":"10.1016\/j.ejmg.2026.105100_bib10","doi-asserted-by":"crossref","DOI":"10.1002\/brb3.2599","article-title":"Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1","volume":"12","author":"Darrigo Junior","year":"2022","journal-title":"Brain Behav"},{"key":"10.1016\/j.ejmg.2026.105100_bib11","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.jdin.2021.12.001","article-title":"Generalized pustular psoriasis in Brazil: a public claims database study","volume":"6","author":"Duarte","year":"2022","journal-title":"JAAD Int."},{"key":"10.1016\/j.ejmg.2026.105100_bib12","doi-asserted-by":"crossref","DOI":"10.3389\/fphar.2022.1089033","article-title":"Editorial: the use of real world data for regulatory purposes in the rare diseases setting","volume":"13","author":"Giannuzzi","year":"2022","journal-title":"Front. Pharmacol."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105100_bib13","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2017.4","article-title":"Neurofibromatosis type 1","volume":"3","author":"Gutmann","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"issue":"8","key":"10.1016\/j.ejmg.2026.105100_bib14","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/S1474-4422(14)70063-8","article-title":"Neurofibromatosis type 1: a multidisciplinary approach to care","volume":"13","author":"Hirbe","year":"2014","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ejmg.2026.105100_bib15","series-title":"Statpearls [Internet]","article-title":"Neurofibromatosis","author":"Le","year":"2025"},{"issue":"8","key":"10.1016\/j.ejmg.2026.105100_bib16","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","article-title":"Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation","volume":"23","author":"Legius","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2026.105100_bib17","doi-asserted-by":"crossref","DOI":"10.3389\/fpubh.2024.1398803","article-title":"Long-term distress throughout one's life: health-related quality of life, economic and caregiver burden of patients with neurofibromatosis type 1 in China","volume":"12","author":"Liang","year":"2024","journal-title":"Front. Public Health"},{"issue":"1","key":"10.1016\/j.ejmg.2026.105100_bib18","doi-asserted-by":"crossref","DOI":"10.1590\/1678-4685-gmb-2024-0144","article-title":"Clinical and epidemiological characterisation of neurofibromatosis type 1: combined analysis of a reference hospital in Brazil and DATASUS","volume":"48","author":"Lins","year":"2025","journal-title":"Genet. Mol. Biol."},{"issue":"Suppl. 2","key":"10.1016\/j.ejmg.2026.105100_bib19","first-page":"S38","article-title":"Natural history and real-world data in rare diseases: applications, limitations, and future perspectives","volume":"62","author":"Liu","year":"2022","journal-title":"J. Clin. Pharmacol."},{"issue":"6","key":"10.1016\/j.ejmg.2026.105100_bib20","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1016\/j.mcna.2019.07.004","article-title":"The diagnosis and management of neurofibromatosis type 1","volume":"103","author":"Ly","year":"2019","journal-title":"Med Clin North Am"},{"issue":"11","key":"10.1016\/j.ejmg.2026.105100_bib21","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1212\/01.WNL.0000163982.78900.AD","article-title":"Diagnostic criteria for schwannomatosis","volume":"64","author":"MacCollin","year":"2005","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.ejmg.2026.105100_bib22","doi-asserted-by":"crossref","first-page":"858","DOI":"10.15446\/rsap.v18n6.53962","article-title":"Frecuencia de enfermedades hu\u00e9rfanas en Cartagena de Indias, Colombia","volume":"18","author":"Malambo-Garcia","year":"2016","journal-title":"Rev Salud P\u00fablica (Bogot\u00e1)"},{"key":"10.1016\/j.ejmg.2026.105100_bib23","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s40900-017-0065-z","article-title":"Patient organization involvement and the challenge of securing access to treatments for rare diseases: report of a policy engagement workshop","volume":"3","author":"Mikami","year":"2017","journal-title":"Res Involv Engagem"},{"key":"10.1016\/j.ejmg.2026.105100_bib24","article-title":"Neurofibromatosis type 1 - an update","volume":"52","author":"Moodley","year":"2024","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.ejmg.2026.105100_bib25","series-title":"Neurofibromatosis Type 1 (NF1) \u2013 Treatment [Internet]","year":"2021"},{"issue":"9","key":"10.1016\/j.ejmg.2026.105100_bib26","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1016\/j.gim.2022.05.007","article-title":"Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation","volume":"24","author":"Plotkin","year":"2022","journal-title":"Genet. Med."},{"issue":"10","key":"10.1016\/j.ejmg.2026.105100_bib27","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pdig.0000368","article-title":"A scoping review of the landscape of health-related open datasets in Latin America","volume":"2","author":"Restrepo","year":"2023","journal-title":"PLOS Digit. Health"},{"issue":"6","key":"10.1016\/j.ejmg.2026.105100_bib28","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1080\/14737159.2018.1468256","article-title":"Clinical and molecular characterization of neurofibromatosis in southern Brazil","volume":"18","author":"Rosset","year":"2018","journal-title":"Expert Rev. Mol. Diagn"},{"issue":"1","key":"10.1016\/j.ejmg.2026.105100_bib30","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1515\/ohe-2023-0017","article-title":"Economic burden and health-related quality of life in patients with neurofibromatosis type 1 in Greece","volume":"4","author":"Sotiropoulou","year":"2023","journal-title":"Open Health"},{"key":"10.1016\/j.ejmg.2026.105100_bib31","series-title":"FDA approves mirdametinib for adult and pediatric patients with neurofibromatosis type 1 who have symptomatic plexiform neurofibromas not amenable to complete resection","year":"2025"},{"key":"10.1016\/j.ejmg.2026.105100_bib32","series-title":"FDA Approves Selumetinib for Pediatric Patients 1 Year of Age and Older with Neurofibromatosis Type 1 with Symptomatic, Inoperable Plexiform Neurofibromas","year":"2025"},{"key":"10.1016\/j.ejmg.2026.105100_bib33","doi-asserted-by":"crossref","DOI":"10.1590\/0100-6991e-20233545","article-title":"Limita\u00e7\u00f5es do uso da base de dados DATASUS como fonte prim\u00e1ria de dados em pesquisas em cirurgia: uma revis\u00e3o de escopo","volume":"50","author":"Viana","year":"2023","journal-title":"Rev. Col. Bras. Cir."},{"issue":"9","key":"10.1016\/j.ejmg.2026.105100_bib34","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1080\/03007995.2021.1940907","article-title":"Characteristics, treatment patterns, healthcare resource use, and costs among pediatric patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas: a retrospective database analysis of a Medicaid population","volume":"37","author":"Yang","year":"2021","journal-title":"Curr. Med. Res. Opin."},{"issue":"4","key":"10.1016\/j.ejmg.2026.105100_bib35","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1080\/03007995.2024.2322698","article-title":"Patient characteristics, treatment patterns, healthcare resource utilization, and costs among patients diagnosed with neurofibromatosis type 1 with and without plexiform neurofibromas in Japan","volume":"40","author":"Yoshida","year":"2024","journal-title":"Curr. Med. Res. Opin."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721226000340?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721226000340?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T23:21:45Z","timestamp":1789168905000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721226000340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":34,"alternative-id":["S1769721226000340"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2026.105100","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neurofibromatosis type 1 in Brazil: Pediatric care in the Unified Health System","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2026.105100","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"105100"}}