Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, Hughes DA, International Society for Pharmacoeconomics and Outcomes Research Rare Disease Special Interest Group. Rare disease terminology and definitions—a systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015;18:906–14.
Article
Google Scholar
Pogue RE, Cavalcanti DP, Shanker S, Andrade RV, Aguiar LR, de Carvalho JL, Costa FF. Rare genetic diseases: update on diagnosis, treatment and online resources. Drug Discov Today. 2018;23:187–95.
Article
Google Scholar
Dharssi S, Wong-Rieger D, Harold M, Terry S. Review of 11 national policies for rare diseases in the context of key patient needs. Orphanet J Rare Dis. 2017;31(12):63.
Article
Google Scholar
Wakap SN, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73.
Article
Google Scholar
Giugliani R, Vairo FP, Riegel M, de Souza CF, Schwartz IV, Pena SD. Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism. Orphanet J Rare Dis. 2016;11:76.
Article
Google Scholar
Abdon Barbosa A, de Oliveira MR, Martins R, Grumach AS. Assessment on hereditary angioedema burden of illness in Brazil: a patient perspective. Allergy Asthma Proc. 2019;40:193–7.
Article
Google Scholar
Vairo FP, Malaga DJ, Kubasky F, Souza CFM, Poswar FO, Baldo G, Giugliani R. Precision medicine for lysosomal disorders. Biomolecules. 2020;10:1110.
Article
Google Scholar
de Souza MV, Krug BC, Picon PD, Schwartz IV. High cost drugs for rare diseases in Brazil: the case of lysosomal storage disorders. Cien Saude Colet. 2010;15:3443–54.
Article
Google Scholar
Agenda de Prioridades de Pesquisa do Ministério da Saúde - APPMS [recurso eletrônico]/Ministério da Saúde, Secretaria de Ciência, Tecnologia e Insumos Estratégicos, Departamento de Ciência e Tecnologia. – Brasília: Ministério da Saúde; 2018.
Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM, IRDiRC Consortium Assembly. The International Rare Diseases Research Consortium: policies and guidelines to maximize impact. Eur J Hum Genet. 2017;25:1293–302.
Article
Google Scholar
Costa-Motta FM, Bender F, Acosta A, Abé-Sandes K, Machado T, Bomfim T, Boa Sorte T, da Silva D, Bittles A, Giugliani R, Leistner-Segal S. A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. Hum Hered. 2014;77:189–96.
Article
Google Scholar
Munford V, Castro LP, Souto R, Lerner LK, Vilar JB, Quayle C, Asif H, Schuch AP, de Souza TA, Ienne S, Alves FIA, Moura LMS, Galante PAF, Camargo AA, Liboredo R, Pena SDJ, Sarasin A, Chaibub SC, Menck CFM. A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations. Br J Dermatol. 2017;176:1270–8.
Article
CAS
Google Scholar
Leadley RM, Lang S, Misso K, Bekkering T, Ross J, Akiyama T, Fietz M, Giugliani R, Hendriksz CJ, Hock NL, McGill J, Olaye A, Jain M, Kleijnen J. A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. Orphanet J Rare Dis. 2014;9:173.
Article
Google Scholar
Souza CAA, Alves MRA, Soares RDL, Kanufre VC, Rodrigues VM, Norton RC, Starling ALP, Aguiar MJB. BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. J Pediatr (Rio J). 2018;94:170–6.
Article
Google Scholar
Cardoso GC, de Oliveira MZ, Paixão-Côrtes VR, Castilla EE, Schuler-Faccini L. Clusters of genetic diseases in Brazil. J Community Genet. 2019;10:121–8.
Article
Google Scholar
Colombo AL, Nucci M, Park BJ, Nouér SA, Arthington-Skaggs B, da Matta DA, Warnock D, Morgan J, Brazilian Network Candidemia Study. Epidemiology of candidemia in Brazil: a nationwide sentinel surveillance of candidemia in eleven medical centers. J Clin Microbiol. 2006;44:2816–23.
Article
CAS
Google Scholar
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017;121:227–40.
Article
CAS
Google Scholar
de Azevedo Medeiros LB, Cândido Dantas VK, Craveiro Sarmento AS, Agnez-Lima LF, Meireles AL, Xavier Nobre TT, de Lima JG, de Melo Campos JTA. High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte. Diabetol Metab Syndr. 2017;9:80.
Article
Google Scholar
Walker Rh, Gatto EM, Bustamante ML, Bernal-Pacheco O, Cardoso F, Castilhos RM, Chana-Cuevas P, Cornejo-Olivas M, Estrada-Bellmann I, Jardim LB, López-Castellanos R, López-Contreras R, Maia DP, Mazzetti P, Miranda M, Rodríguez-Violante M, Teive H, Tumas V. Huntington’s disease-like disorders in Latin America and the Caribbean. Parkinsonism Relat Disord. 2018;53:10–20.
Article
Google Scholar
Hamerschlak N, Maluf E, Biasi-Cavalcanti A, Avezum Júnior A, Eluf-Neto J, Passeto Falcão R, Lorand-Metze IG, Goldenberg D, Leite Santana C, de Oliveira Werneck Rodrigues D, Nascimento da Motta Passos L, Oliveira de Miranda Coelho E, Tostes Pintão MC, Moraes de Souza H, Borbolla JR, Pasquini R. Incidence and risk factors for agranulocytosis in Latin American countries—the Latin Study: a multicenter study. Eur J Clin Pharmacol. 2008;64:921–9.
Article
Google Scholar
Hamerschlak N, Maluf E, Pasquini R, Eluf-Neto J, Moreira FR, Cavalcanti AB, Okano IR, Falcão RP, Pita MT, Loggetto SR, Rosenfeld LG, Lorand-Metze IG. Incidence of aplastic anemia and agranulocytosis in Latin America—the LATIN study. Sao Paulo Med J. 2005;123:101–4.
Article
Google Scholar
Raskin S, Pereira-Ferrari L, Reis FC, Abreu F, Marostica P, Rozov T, Cardieri J, Ludwig N, Valentin L, Rosario-Filho NA, Camargo Neto E, Lewis E, Giugliani R, Diniz EM, Culpi L, Phillip JA 3rd, Chakraborty R. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. J Cyst Fibros. 2008;7:15–22.
Article
CAS
Google Scholar
Bustamante-Teixeira MT, Latorre MDRDO, Guerra MR, Tanaka LF, Botta L, Trama A, Gatta G. Incidence of rare cancers in the city of São Paulo, Brazil. Tumori. 2019;105:22–30.
Article
Google Scholar
Wagner SC, de Castro SM, Gonzalez TP, Santin AP, Zaleski CF, Azevedo LA, Dreau H, Henderson S, Old J, Hutz MH. Neonatal screening for hemoglobinopathies: results of a public health system in South Brazil. Genet Test Mol Biomarkers. 2010;14:565–9.
Article
Google Scholar
Botler J, Camacho LA, Cruz MM. Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program. Cad Saude Publica. 2012;28:1623–31.
Article
Google Scholar
Boton Pereira DH, Primo LS, Pelizari G, Flores E, de Moraes-Vasconcelos D, Condino-Neto A, Prestes-Carneiro LE. Primary immunodeficiencies in a Mesoregion of São Paulo, Brazil: epidemiologic, clinical, and geospatial approach. Front Immunol. 2020;11:862.
Article
Google Scholar
Balmant NV, de Souza RR, de Oliveira SM, de Camargo B, Gatta G. Rare cancers in childhood and adolescence in Brazil: first report of data from 19 population-based cancer registries. Cancer. 2019;125:2638–46.
PubMed
Google Scholar
Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Botto LD, Clementi M, Correa A, Csaky-Szunyogh M, Leoncini E, Li Z, López-Camelo JS, Lowry RB, Marengo L, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Castilla EE. Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. Am J Med Genet C Semin Med Genet. 2011;157C:358–73.
Article
Google Scholar
Mallmann MB, Tomasi YT, Boing AF. Neonatal screening tests in Brazil: prevalence rates and regional and socioeconomic inequalities. J Pediatr (Rio J). 2020;96:487–94.
Article
Google Scholar
de Carvalho TM, dos Santos HP, dos Santos IC, Vargas PR, Pedrosa J. Newborn screening: a national public health programme in Brazil. J Inherit Metab Dis. 2007;30:615.
Article
Google Scholar
Ministry of Health. DATASUS. http://www.datasus.gov.br. Accessed Sept 2020.
Shire Human Genetic Technologies. Rare disease impact report. 2013. http://www.rarediseaseimpact.com. Accessed Sept 2020.
Rajasimha HK, Shirol PB, Ramamoorthy P, Hegde M, Barde S, Chandru V, Ravinandan ME, Ramchandran R, Haldar K, Lin JC, Babar IA, Girisha KM, Srinivasan S, Navaneetham D, Battu R, Devarakonda R, Kini U, Vijayachandra K, Verma IC. Organization for rare diseases India (ORDI)—addressing the challenges and opportunities for the Indian rare diseases’ community. Genet Res (Camb). 2014;96:e009.
Article
Google Scholar
Vieira T, Schwartz I, Muñoz V, Pinto L, Steiner C, Ribeiro M, Boy R, Ferraz V, de Paula A, Kim C, Acosta A, Giugliani R. Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? Am J Med Genet A. 2008;146A:1741–7.
Article
Google Scholar
Shi J, Ren M, Jia J, Tang M, Guo Y, Ni X, Shi T. Genotype-phenotype association analysis reveals new pathogenic factors for Osteogenesis Imperfecta disease. Front Pharmacol. 2019;10:1200.
Article
CAS
Google Scholar
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Recommendations for improving the quality of rare disease registries. Int J Environ Res Public Health. 2018;15:1644.
Article
Google Scholar
Ali MS, Ichihara MY, Lopes LC, Barbosa GCG, Pita R, Carreiro RP, dos Santos DB, Ramos D, Bispo N, Raynal F, Canuto V, de Araujo AB, Fiaccone RL, Barreto ME, Smeeth L, Barreto ML. Administrative data linkage in Brazil: potentials for health technology assessment. Front Pharmacol. 2019;10:984.
Article
Google Scholar
Mazzucato M, Visonà Dalla Pozza L, Manea S, Minichiello C, Facchin P. A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry. Orphanet J Rare Dis. 2014;9:37.
Article
Google Scholar
Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002;140:321–7.
Article
Google Scholar
Alves D, Yamada DB, Bernardi FA, Carvalho I, Filho MEC, Neiva MB, Lima VC, Félix TM. Mapping, infrastructure, and data analysis for the Brazilian Network of Rare Diseases: protocol for the RARASnet Observational Cohort Study. JMIR Res Protoc. 2021;10:e24826.
Article
Google Scholar
Brasil. Ministério da Saúde. Diário Oficial da União. Portaria 199 de 30 de janeiro de 2014.
Lima VC, Alves A, Pellison FC, Yoshiura VT, Crepaldi NY, Rijo RPCL. Establishment of access levels for health sensitive data exchange through semantic web. Procedia Comput Sci. 2018;138:191–6.
Article
Google Scholar
World health statistics 2018: monitoring health for the SDGs, sustainable development goals. Geneva: World Health Organization; 2018. Licence: CC BY-NC-SA 3.0 IGO.
Yoshiura VT, Yamada DB, Pellison FC, Lima IB, Damian IPM, Rijo RPCL, Marques JMA, Alves D. Towards a health observatory conceptual model based on the semantic web. Procedia Comput Sci. 2018;138:131–6.
Article
Google Scholar
Porter ME, Teisberg EO. Redefining health care: creating value-based competition on results. Boston: Harvard Business School Press; 2006.
Google Scholar
BRASIL. Ministério da Saúde, Secretaria de Atenção à Saúde, Secretaria de Ciência, Tecnologia e Insumos Estratégicos. Portaria conjunta nº 16, de 24 de maio de 2018. Aprova o Protocolo Clínico e Diretrizes Terapêuticas da Mucopolissacaridose do tipo II. Diário Oficial da União; 2018.
BRASIL. Ministério da Saúde, Secretaria de Atenção à Saúde, Secretaria de Ciência, Tecnologia e Insumos Estratégicos. Portaria conjunta nº 16, de 2 de outubro de 2018. Aprova o Protocolo Clínico e Diretrizes Terapêuticas da Polineuropatia Amiloidótica Familiar. Diário Oficial da União; 2018.
BRASIL. Ministério da Saúde, Secretaria de Atenção à Saúde, Secretaria de Ciência, Tecnologia e Insumos Estratégicos. Portaria conjunta nº 12, de 7 de janeiro de 2019. Aprova o Protocolo Clínico e Diretrizes Terapêuticas da Acromegalia. Diário Oficial da União. Brasil; 2019.
BRASIL. Ministério da Saúde, Secretaria de Atenção à Saúde, Secretaria de Ciência, Tecnologia e Insumos Estratégicos. Portaria conjunta nº 2, de 10 de setembro de 2019. Aprova o Protocolo Clínico e Diretrizes Terapêuticas da Fenilcetonúria. Diário Oficial da União; 2019.
BRASIL. Ministério da Saúde, Secretaria de Atenção à Saúde, Secretaria de Ciência, Tecnologia e Insumos Estratégicos. Portaria conjunta nº 3, de 17 de janeiro de 2020. Aprova o Protocolo Clínico e Diretrizes Terapêuticas da Homocistinúria Clássica. Diário Oficial da União.
BRASIL. Ministério da Saúde, Secretaria de Atenção à Saúde. Portaria nº 1.360, de 22 de novembro de 2013. Aprova o Protocolo Clínico e Diretrizes Terapêuticas de Osteogênese Imperfeita. Diário Oficial da União; 2013.
BRASIL. Ministério da Saúde, Secretaria de Atenção à Saúde. Portaria nº 880, de 12 de julho de 2016. Aprova o Protocolo Clínico e Diretrizes Terapêuticas do Angioedema associado à deficiência de C1 esterase (C1-INH). Diário Oficial da União; 2016.
BRASIL. Fundação Instituto Brasileiro de Geografia e Estatística. Resolução nº 3, de 26 de agosto de 2019. Divulga as estimativas da População para Estados e Municípios com data de referência em 1º de julho de 2019. Diário Oficial da União; 2019.