Rare diseasesan historical introduction

Referencias bibliográficas

• Akrich, Madeleine, João Nunes, Florence Paterson and Vololona Rabeharisoa, eds. The dynamics of patient organizations in Europe. Paris: Presses de l’École des Mines, 2008.
• Akrich, Madeleine, Orla O'Donovan and Vololona Rabeharisoa. The entanglement of scientific and political claims: towards a new form of patients’ activism. Paris: Papiers de Recherche du CSI, 2013.
• Allier Montaño, Eugenia. “Balance de la historia del tiempo presente. Creación y consolidación de un campo historiográfico,” Revista de Estudios Sociales 65 (2018):100-112.
• Anthes, Emily K. “The Chosen Genes: Jews, Genetics, and the Future of Ethnic Medicine.” Master diss., Massachusetts Institute of Technology, 2006.
• Araújo Neto, Luiz Alves, and Luiz Antonio Teixeira. “New problems of a new health system: the creation of a national public policy of rare diseases care in Brazil (1990s-2010s).” Salud Colectiva 16 (2020):e2210. https://doi.org/10.18294/sc.2020.2210
• Ballester, Rosa, and María Isabel Porras, eds. “Políticas, respuestas sociales y movimientos asociativos frente a la poliomyelitis: la experiencia europea (1940-1975)”. Dynamis 32, no. 2 (2012):273-414.
• Bogdan, Robert. Freak Show: Presenting Human Oddities for Amusement and Profit. Chicago y Londres: The University of Chicago Press, 1988.
• Callon, Michel, and Vololona Rabeharisoa. “The Growing Engagement Concerned Groups in Political and Economic Life: Lessons from the French Association of Neuromuscular Disease Patients”, Science, Technology & Human Values 33, no. 2 (2008): 230-261. https://doi.org/10.1177/0162243907311264
• Cruz Hernández, Manuel, and Juan Bosch Hugas. Manual ilustrado de enfermedades raras. Madrid: Ergon, 2013.
• Daston, Lorraine and Katharine Park. Wonders and the order of nature, 1150-1750. Nueva York: Zone Books, 1998.
• EURORDIS (European Organisation for Rare Diseases). Enfermedades Raras: el conocimiento de esta prioridad de la Salud Pública. París: EURORDIS, 2005.
• Ferrelli, Rita María, Bernardino Fantini and Domenica taruscio. “Health systems sustainability for rare diseases.” Annali dell’Istituto Superiore di Sanità 55, n.º 3 (2019):249-304.
• Fujimura, Joan H. “Crafting science: standardized packages, boundary objects and ‘translation’”. In Science as Practice and Culture, edited by Andrew Pickering, 168-211. Chicago: University of Chicago Press, 1992.
• Griffiths, David Andrew. “Shifting syndromes: sex chromosome variations and intersex classifications.” Social Studies of Science, 48, no. 1 (2018): 125-148. doi: 10.1177/0306312718757081
• Hedley, Victoria, Valentina Bottarelli, Ariane Weinman and Domenica Taruscio. “Shaping national plans and strategies for rare diseases in Europe: past, present, and future.” Journal of Community Genetics 12 (2021): 207-216. https://doi.org/10.1007/s12687-021-00525-4.
• Hernández Martín, Gregoria, and José Martínez-Pérez. “Cambio político, enfermedad y reforma sanitaria: la respuesta asistencial al Síndrome del Aceite Tóxico (España, 1981-1998).” Asclepio 63, n.º 2 (2011):521-543. https://doi.org/10.3989/asclepio.2011.v63.i2.504.
• Huisman, Frank, and Harry Oosterhuis, eds. Health and Citizenship: Political cultures of health in Modern Europe. London – New York: Routledge, 2016.
• Huyard, Caroline. How did uncommon disorders become ‘rare diseases’? History of a boundary object. Sociology of Health & Illness. 2009; 31(4): 463-77. doi: https://doi.org/10.1111/j.1467-9566.2008.01143.x.
• Huyard, Caroline. Rare. Sur la cause politique des maladies peu fréquentes. Paris: EHESS, 2012.
• Ingram, George I.C. The history of haemophilia. Margate: Eyre&Spottiswoode, Thanet Press, 1976.
• Iskrov, Georgi, Rumen Stefanov and Rita Maria Ferreli. “Health systems for rare diseases: financial sustainability.” Annali dell’Istituto Superiore di Sanità 55, n.º 3 (2019): 270-275.
• Izquierdo Martínez, Maravillas, and AlfredoAvellaneda Fernández. “Enfoque interdisciplinario de las enfermedades raras: un nuevo reto para un nuevo siglo.” MedicinaClínica (Barcelona) 121, no. 8 (2003): 299-303.
• Jung, Monica de Paula, Maria Helena Cabral de Almeida Cardoso, Maria Auxiliadora Monteiro Villar, and Juan Clinton Llerena Jr. “Revisitando o desvendamento da etiología da síndrome de Turner.” História, ciências, saúde - Manguinhos, 16, no. 2 (2009): 361-376. https://doi.org/10.1590/S0104-59702009000200005
• Knight, Andrew W., and Timothy P. Senior. “The common problem of rare disease in general practice.” Medical Journal of Australia 185, no. 2 (2006): 82-83.
• Kole, Anna, Hedley, Victoria, et al. Recommendations from the Rare 2030 Foresight Study: The future of rare diseases starts today. 2021. https://download2.eurordis.org/rare2030/Rare2030_recommendations.pdf
• Laín Entralgo, Pedro. La historia clínica: historia y teoría del relato patográfico, Madrid: CSIC, 1950.
• Marcaida López, José Ramón. Arte y ciencia en el Barroco español: Historia natural, coleccionismo y cultura visual, Madrid: Fundación Focus-Abengoa; Marcial Pons Historia, 2014.
• Mikami, Koichi. Orphans in the market: The history of orphan drug policy. Social History of Medicine. 2019; 32(3): 609-30.
• Mold, Alex. Making the Patient-Consumer: Patient organisations and health consumerism in Britain. Manchester: Manchester University Press, 2015.
• Orphanet. Encyclopaedia for professionals. https://www.orpha.net/consor/cgi-bin/Disease_ProEncyclo.php?lng=EN
• Ortega Calvo, Manuel. “Las enfermedades raras como paradigma científico en atención primaria.” Cuad Gestión 10, no. 2 (2004):41-44.
• Owen, Charles A. A History of Blood Coagulation, Rochester: Mayo Foundation, 2001.
• Palau, Francesc. “Enfermedades raras, un paradigma emergente en la medicina del siglo XXI.” Medicina Clínica (Barcelona) 134, no. 4 (2010): 161-168.
• Paul, Diane B. “How PKU became a genetic disease.” In Human heredity in the Twentieth Century, edited by Bernd Gausemeier, Staffan Müller-Wille, Edmund Ramsden, 179-192. London – New York: Routledge, 2013.
• Paul, Diane B., and Jeffrey P. Brosco. The PKU Paradox: A Short History of a Genetic Disease. Baltimore: Johns Hopkins University Press, 2013.
• Paul DB, and PJ Edelson. The struggle over metabolic screening. In: Chadarevian S, Kamminga, H, editoras. Molecularizing biology and medicine. New practices and alliances, 1910s-1970s. Amsterdam: Harwood Academic Publishers; 1998, p. 203-20.
• Paul, Diane B., and Edelson, Paul J. “The struggle over metabolic screening.” In Molecularizing biology and medicine. New practices and alliances, 1910s-1970s, edited by Soraya de Chadarevian, Harmke Kamminga, 203-220. Amsterdam: Harwood Academic Publishers, 1998.
• Pemberton, Stephen Gregory. The bleeding disease: hemophilia and the unintended consequences of medical progress. Baltimore: Johns Hopkins University Press, 2011.
• Pryde, David C., and Michael J. Palmer, eds. Orphan Drugs and Rare Diseases. Cambridge, UK: The Royal Society of Chemistry, 2014.
• Rabeharisoa, Vololona. “The struggle against neuromuscular diseases in France and the emergence of the ‘partnership model’ of patient organization.” Social Science & Medicine 257, no. 11 (2003): 2127-2136. Doi: https://doi.org/10.1016/S0277-9536(03)00084-4
• Rabeharisoa, Vololona. “From representation to mediation: the shaping of collective mobilization on muscular dystrophy in France.” Social Science & Medicine 62, no. 3 (2006): 564-576. Doi: https://doi.org/10.1016/j.socscimed.2005.06.036
• Rabeharisoa, Vololona, and Callon, Michel. Le pouvoir des malades: l’association française contre les myopathies et la recherché. Paris: Les Presses de l’École des Mines, 1999.
• Rabeharisoa, Vololona, Michel Callon, Angela Filipe Marques, João Arriscado Nunes, Florence Paterson and Frédéric Vergnaud. The dynamics of causes and conditions: the rareness of diseases in French and Portuguese patients’ organizations’ engagement in research. CSI Working Papers Series, 26. Paris: Centre de Sociologie de l’Innovation, 2012.
• Reuter, Shelley Z. “Testing fate: Tay-Sachs disease and the right to be responsible.” Master diss, University of Minnesota Press, 2016.
• Resnik, Susan. Blood saga: hemophilia, AIDS, and the survival of a community. Berkeley: University of California Press, 1999.
• Richter, Trevor, Sandra Nestler-Parr, Robert Babela, Zeba Khan, Theresa Tesoro, Elizabeth Molsen and Dyfrig Huges. “Rare disease Terminology and Definitions – A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.” Value in Health 18 (2015): 906-914. http://dx.doi.org/10.1016/j.jval.2015.05.008
• Rodríguez-Sánchez, Juan Antonio. “Un presente lleno de historia(s): la poliomielitis, entre las secuelas y el legado”. Dynamis 40, no. 2 (2020): 505-516.
• Rodríguez-Sánchez, Juan Antonio, and Inés Guerra Santos. “La ‘rara’ secuela de una epidemia: el caso del síndrome postpolio.” In Enfermedades raras. Contribuciones a la investigación social y biomédica, edited by Juan Coca, 129-175. CEASGA, 2019.
• Rodríguez-Sánchez, Juan Antonio, and Inés Guerra Santos. “Cuerpos deslegitimados, síndromes ignorados: de la poliomielitis al síndrome post-polio en España.” Clío & Crimen 16 (2019): 393-412.
• Rodríguez-Sánchez, Juan Antonio, and Raúl Velasco Morgado, eds. Las enfermedades raras: una historia del presente. Madrid: La Catarata, en prensa.
• Rodríguez-Sánchez, Juan Antonio, Raúl Velasco Morgado, Inés Guerra Santos and Dilene Raimundo, eds. Conocimiento y empoderamiento: las enfermedades raras y el síndrome postpolio (1950-2018). Salamanca: Ediciones Universidad de Salamanca, en prensa.
• Sanmartín, Israel. “Las historias inmediatas y del presente en la historiograf ía actual,” Historiograf ías 15 (2018):36-51.
• Silva, Danielle Fialho da. “Redes de solidariedade do sentir e do resistir: associativismo dos pacientes com fibromialgia e síndrome pós-pólio nos meios digitais (2004 –2021).” PhD diss. Casa de Oswaldo Cruz/Fiocruz, 2021.
• Testa, Daniela. Del alcanfor a la vacuna Sabin: la polio en la Argentina. Buenos Aires: Biblos, 2018.
• Vale Costa, Liliana and Ana Isabel Veloso. Portraying Rare and Misdiagnosed Diseases in Movies: A Content Analysis, 1980-2018. In Communicating Rare Diseases and Disorders in the Digital Age. IGI global, 2020.
• Vargha, Dóra. Polio across the Iron Curtain: Hungary’s Cold War with an epidemic. Cambridge: CUP, 2018.
• Vicente, Esther, Eva Ardanaz, Enrique Ramalle-Gómara, Luis J. Echevarría, M. Pilar Mira, Juan Pablo Chalco-Orrego, Consuelo Benito, Sandra Guardiola-Vilarroig, et al. “Vigilancia de las enfermedades raras en España: el Registro Estatal de Enfermedades Raras (ReeR).” Revista Española de Salud Pública 95 (2021): e202111186. https://www.sanidad.gob.es/biblioPublic/publicaciones/recursos_propios/resp/revista_cdrom/VOL95/C_ESPECIALES/RS95C_202111186.pdf
• Wiel, Stalparti Van der. Observationum rariorum medic. Anatomic. Chirurgicarum centuria prior. Accedit de unicornu dissertatio. P. Vander au: Leiden, 1687.
• Wu, Zhan He, ed. Rare Diseases. IntechOpen, 2020. doi: 10.5772/intechopen.83131.