TY - STD TI - EURORDIS. Rare Diseases: understanding this Public Health Priority. 2005. https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf. UR - https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf ID - ref1 ER - TY - JOUR AU - Guillem, P. AU - Cans, C. AU - Robert-Gnansia, E. AU - Aymé, S. AU - Jouk, P. S. PY - 2008 DA - 2008// TI - Rare diseases in disabled children: an epidemiological survey JO - Arch Dis Child VL - 93 UR - https://doi.org/10.1136/adc.2006.104455 DO - 10.1136/adc.2006.104455 ID - Guillem2008 ER - TY - JOUR AU - Beaulieu, C. L. AU - Majewski, J. AU - Schwartzentruber, J. AU - Samuels, M. E. AU - Fernandez, B. A. AU - Bernier, F. P. PY - 2014 DA - 2014// TI - FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project JO - Am J Hum Genet VL - 94 UR - https://doi.org/10.1016/j.ajhg.2014.05.003 DO - 10.1016/j.ajhg.2014.05.003 ID - Beaulieu2014 ER - TY - JOUR AU - Cohen, J. S. AU - Biesecker, B. B. PY - 2010 DA - 2010// TI - Quality of life in rare genetic conditions: a systematic review of the literature JO - Am J Med Genet VL - 152a UR - https://doi.org/10.1002/ajmg.a.33380 DO - 10.1002/ajmg.a.33380 ID - Cohen2010 ER - TY - JOUR AU - Dodge, J. A. AU - Chigladze, T. AU - Donadieu, J. AU - Grossman, Z. AU - Ramos, F. AU - Serlicorni, A. PY - 2011 DA - 2011// TI - The importance of rare diseases: from the gene to society JO - Arch Dis Childh VL - 96 UR - https://doi.org/10.1136/adc.2010.193664 DO - 10.1136/adc.2010.193664 ID - Dodge2011 ER - TY - JOUR AU - Hiremath, G. AU - Kodroff, E. AU - Strobel, M. J. AU - Scott, M. AU - Book, W. AU - Reidy, C. AU - Kyle, S. AU - Mack, D. AU - Sable, K. AU - Abonia, P. AU - Spergel, J. PY - 2018 DA - 2018// TI - Individuals affected by eosinophilic gastrointestinal disorders have complex unmet needs and frequently experience unique barriers to care JO - Clin Res Hepatol Gastroenterol VL - 42 UR - https://doi.org/10.1016/j.clinre.2018.03.003 DO - 10.1016/j.clinre.2018.03.003 ID - Hiremath2018 ER - TY - JOUR AU - Hollis, A. AU - Dart, A. AU - Morgan, C. AU - Mammen, C. AU - Zappitelli, M. AU - Chanchlani, R. AU - Samuel, S. PY - 2019 DA - 2019// TI - Delays in diagnosis of nephrotic syndrome in children: a survey study JO - Paediatr Child Health VL - 24 UR - https://doi.org/10.1093/pch/pxy165 DO - 10.1093/pch/pxy165 ID - Hollis2019 ER - TY - JOUR AU - Molster, C. AU - Urwin, D. AU - Pietro, L. AU - Fookes, M. AU - Petrie, D. AU - Laan, S. AU - Dawkins, H. PY - 2016 DA - 2016// TI - Survey of healthcare experiences of Australian adults living with rare diseases JO - Orphanet J Rare Dis VL - 11 UR - https://doi.org/10.1186/s13023-016-0409-z DO - 10.1186/s13023-016-0409-z ID - Molster2016 ER - TY - JOUR AU - Zurynski, Y. AU - Deverell, M. AU - Dalkeith, T. AU - Johnson, S. AU - Christodoulou, J. AU - Leonard, H. AU - Elliott, E. J. PY - 2017 DA - 2017// TI - Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-017-0622-4 DO - 10.1186/s13023-017-0622-4 ID - Zurynski2017 ER - TY - JOUR AU - Wolin, E. M. AU - Leyden, J. AU - Goldstein, G. AU - Kolarova, T. AU - Hollander, R. AU - Warner, R. R. P. PY - 2017 DA - 2017// TI - Patient-reported experience of diagnosis, management, and burden of neuroendocrine tumors: results from a large patient survey in the United States JO - Pancreas VL - 46 UR - https://doi.org/10.1097/MPA.0000000000000818 DO - 10.1097/MPA.0000000000000818 ID - Wolin2017 ER - TY - JOUR AU - Zurynski, Y. AU - Frith, K. AU - Leonard, H. AU - Elliott, E. PY - 2008 DA - 2008// TI - Rare childhood diseases: how should we respond? JO - Arch Dis Child VL - 93 UR - https://doi.org/10.1136/adc.2007.134940 DO - 10.1136/adc.2007.134940 ID - Zurynski2008 ER - TY - JOUR AU - Lippe, C. AU - Diesen, P. S. AU - Feragen, K. B. PY - 2017 DA - 2017// TI - Living with a rare disorder: a systematic review of the qualitative literature JO - Mol Genet Genomic Med VL - 5 UR - https://doi.org/10.1002/mgg3.315 DO - 10.1002/mgg3.315 ID - Lippe2017 ER - TY - JOUR AU - Baumbusch, J. AU - Mayer, S. AU - Sloan-Yip, I. PY - 2018 DA - 2018// TI - Alone in a crowd? Parents of children with rare diseases' experiences of navigating the healthcare system JO - J Genet Couns. UR - https://doi.org/10.1007/s10897-018-0294-9 DO - 10.1007/s10897-018-0294-9 ID - Baumbusch2018 ER - TY - JOUR AU - Currie, G. AU - Szabo, J. PY - 2019 DA - 2019// TI - "It is like a jungle gym, and everything is under construction": the parent's perspective of caring for a child with a rare disease JO - Child Care Health Dev VL - 45 UR - https://doi.org/10.1111/cch.12628 DO - 10.1111/cch.12628 ID - Currie2019 ER - TY - JOUR AU - Lopes, M. T. AU - Koch, V. H. AU - Sarrubbi-Junior, V. AU - Gallo, P. R. AU - Carneiro-Sampaio, M. PY - 2018 DA - 2018// TI - Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals JO - Clinics (Sao Paulo) VL - 73 ID - Lopes2018 ER - TY - JOUR AU - Salisbury, C. h. AU - Wallace, M. AU - Montgomery, A. A. PY - 2010 DA - 2010// TI - Patients’ experience and satisfaction in primary care: secondary analysis using multilevel modelling JO - BMJ VL - 341 UR - https://doi.org/10.1136/bmj.c5004 DO - 10.1136/bmj.c5004 ID - Salisbury2010 ER - TY - JOUR AU - Ahmed, F. AU - Burt, J. AU - Roland, M. PY - 2014 DA - 2014// TI - Measuring patient experience: concepts and methods JO - Patient VL - 7 UR - https://doi.org/10.1007/s40271-014-0060-5 DO - 10.1007/s40271-014-0060-5 ID - Ahmed2014 ER - TY - JOUR AU - Male, L. AU - Noble, A. AU - Atkinson, J. AU - Marson, T. PY - 2017 DA - 2017// TI - Measuring patient experience: a systematic review to evaluate psychometric properties of patient reported experience measures (PREMs) for emergency care service provision JO - Int J Qual Health Care VL - 29 UR - https://doi.org/10.1093/intqhc/mzx027 DO - 10.1093/intqhc/mzx027 ID - Male2017 ER - TY - JOUR AU - Doyle, C. AU - Lennox, L. AU - Bell, D. PY - 2013 DA - 2013// TI - A systematic review of evidence on the links between patient experience and clinical safety and effectiveness JO - BMJ Open VL - 3 UR - https://doi.org/10.1136/bmjopen-2012-001570 DO - 10.1136/bmjopen-2012-001570 ID - Doyle2013 ER - TY - JOUR AU - Mira, J. J. AU - Nuño-Solinís, R. AU - Guilabert-Mora, M. AU - Solas-Gaspar, O. AU - Fernández-Cano, P. AU - González-Mestre, M. A. AU - Contel, J. C. AU - Río-Cámara, M. PY - 2016 DA - 2016// TI - Development and validation of an instrument for assessing patient experience of chronic illness care JO - Int J Integr Care VL - 16 UR - https://doi.org/10.5334/ijic.2443 DO - 10.5334/ijic.2443 ID - Mira2016 ER - TY - JOUR AU - Orozco-Beltrán, D. AU - Toro, J. AU - Galindo, M. J. PY - 2018 DA - 2018// TI - Healthcare experience and their relationship with demographic, disease and healthcare-related variables: a cross-sectional survey of patients with chronic diseases using the IEXPAC scale JO - Patient UR - https://doi.org/10.1007/s40271-018-0345-1 DO - 10.1007/s40271-018-0345-1 ID - Orozco-Beltrán2018 ER - TY - JOUR AU - Guilabert, M. AU - Amil, P. AU - González-Mestre, A. AU - Gil-Sánchez, E. AU - Vila, A. AU - Carles Contel, J. AU - Ansotegui, J. C. AU - Solas, O. AU - Bacigalupe, M. T. AU - Fernández-Cano, P. AU - Arteagoita, M. AU - Mira, J. J. PY - 2018 DA - 2018// TI - The measure of the family caregivers’ experience JO - Int J Environ Res Public Health VL - 15 UR - https://doi.org/10.3390/ijerph15092040 DO - 10.3390/ijerph15092040 ID - Guilabert2018 ER - TY - JOUR AU - Budych, K. AU - Helms, T. M. AU - Schultz, C. PY - 2012 DA - 2012// TI - How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction JO - Health Policy VL - 105 UR - https://doi.org/10.1016/j.healthpol.2012.02.018 DO - 10.1016/j.healthpol.2012.02.018 ID - Budych2012 ER -