1 Melnikova I. Rare diseases and orphan drugs. Nat Rev Drug Discov 2012;11:267. doi:10.1038/nrd3654
2 Lavandeira A. Orphan drugs: legal aspects, current situation. Haemophilia 2002;8:194–8. doi:10.1046/j.1365-2516.2002.00643.x
3 Rare diseases and orphan products. Ref. Res. B. News. 2011;26.
4 Hallal C, Kieling C, Nunes D, et al. Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience. Pediatr Surg Int 2012;28:1211–7. doi:10.1007/s00383-012-3214-3
5 He J, Kang Q, Hu J, et al. China has officially released its first national list of rare diseases. Intractable Rare Dis Res 2018;7:145–7. doi:10.5582/irdr.2018.01056
6 Bhattacharyya S, Berkowitz AL. Primary angiitis of the central nervous system: avoiding misdiagnosis and missed diagnosis of a rare disease. Pract. Neurol. 2016;16. doi:10.1136/practneurol-2015-001332
7 Graber ML. The incidence of diagnostic error in medicine. BMJ Qual. Saf. 2013;22:ii21. doi:10.1136/bmjqs-2012-001615
8 Shen F, Liu S, Wang Y, et al. Leveraging Collaborative Filtering to Accelerate Rare Disease Diagnosis. AMIA . Annu Symp proceedings AMIA Symp 2017;2017:1554–63.
9 Blöß S, Klemann C, Rother A-K, et al. Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey. PLoS One 2017;12:e0172532.
10 Litzkendorf S, Babac A, Rosenfeldt D, et al. Information Needs of People with Rare Diseases - What Information Do Patients and their Relatives Require ? J Rare Disord Diagnosis Ther 2016;2:1–11.
11 Kuruvilla Abraham MD, Bhattacharya Pratik MD, Rajamani Kumar MD, et al. Factors Associated With Misdiagnosis of Acute Stroke in Young Adults. J Stroke Cerebrovasc Dis 2011;20:523–7.
12 National Bureau of Statistics of China. The social and economic divide of China. http://www.stats.gov.cn/ztjc/zthd/sjtjr/dejtjkfr/tjkp/201106/t20110613_71947.htm
13 Schnittker J, McLeod JD. The Social Psychology of Health Disparities. Annu Rev Sociol 2005;31:75–103.
14 Präg P, Mills MC, Wittek R. Subjective socioeconomic status and health in cross-national comparison. Soc Sci Med 2016;149:84–92.
15 Manos MJ, Giuliano K, Geyer E. ADHD: Overdiagnosed and overtreated, or misdiagnosed and mistreated? Cleve Clin J Med 2017;84:873–80.
16 Yang CL, Simons E, Foty RG, et al. Misdiagnosis of asthma in schoolchildren. Pediatr Pulmonol 2017;52:293–302.
17 Rance B, Snyder M, Lewis J, et al. Leveraging terminological resources for mapping between rare disease information sources. Stud Health Technol Inform 2013;192:529–33.https://pubmed.ncbi.nlm.nih.gov/23920611
18 Tan S, Goonawardene N. Internet Health Information Seeking and the Patient-Physician Relationship: A Systematic Review. J Med Internet Res 2017;19:73–87. doi:10.2196/jmir.5729
19 CNNIC. 40th Statistical Report on Internet Development in China. 2017. http://www1.cnnic.cn/IDR/ReportDownloads/201302/P020130221391269963814.pdf
20 Liu L, Chen B, Ai C, et al. The Influence of Geographic Factors on Information Dissemination in Mobile Social Networks in China: Evidence from WeChat. ISPRS Int J geo-information 2018;7:189.
21 Wang W, Zhuang X, Shao P. Exploring Health Information Sharing Behavior of Chinese Elderly Adults on WeChat. Healthc 2020;8:207.
22 Pauer F, Litzkendorf S, Göbel J, et al. Rare Diseases on the Internet: An Assessment of the Quality of Online Information. J Med Internet Res 2017;19:e23.
23 Huang R, Wei Y, Hu J, et al. The progress of, challenges faced by, and future of rare disease patient organizations in China. Intractable rare Dis Res 2019;8:158–60.
24 Choudhury MC, Saberwal G. The role of patient organizations in the rare disease ecosystem in India: An interview based study. Orphanet J Rare Dis 2019;14:1–14. doi:10.1186/s13023-019-1093-6
25 Hall JG. The role of patient advocacy/parent support groups. S Afr Med J 2013;103:1020. doi:10.7196/samj.6976
26 Groft SC. Rare diseases research expanding collaborative translational research opportunities. Chest 2013;144:16–23. doi:10.1378/chest.13-0606
27 Chad DA, Bidichandani S, Bruijn L, et al. Funding agencies and disease organizations: Resources and recommendations to facilitate ALS clinical research. Amyotroph Lateral Scler Front Degener 2013, Vol14(S1), p62-66 2013;14:62–6. doi:10.3109/21678421.2013.778588
28 Aymé S, Kole A, Groft S. Empowerment of patients: lessons from the rare diseases community. Lancet (British Ed 2008;371:2048–51.
29 Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis 2013;8:22.
30 Gómez-Zúñiga B, Pulido Moyano R, Pousada Fernández M, et al. The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust. Orphanet J Rare Dis 2019;14:114–59.
31 Hannemann-Weber H, Kessel M, Budych K, et al. Shared communication processes within healthcare teams for rare diseases and their influence on healthcare professionals’ innovative behavior and patient satisfaction. Implement Sci 2011;6:40.
32 Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy (New York) 2012;105:154–64. doi:10.1016/j.healthpol.2012.02.018
33 Elder CR, Debar LL, Ritenbaugh C, et al. Health Care Systems Support to Enhance Patient-Centered Care: Lessons from a Primary Care-Based Chronic Pain Management Initiative. Perm J 2017;21. doi:http://dx.doi.org/10.7812/TPP/16-101
34 Zhang X, Sleeboom-Faulkner M. Tensions between medical professionals and patients in mainland China. Camb Q Healthc Ethics 2011;20:458–65. doi:https://dx.doi.org/10.1017/S0963180111000144
35 Liu M, Hu Y. A Mini Review of Patients Access to Health Information in China. J Heal Med Informatics 2016;7. doi:10.4172/2157-7420.1000237
36 Xinhua News Agency. 30% of Doctors said they don’t understand the rare disease very well. http://www.xinhuanet.com/gongyi/2018-02/28/c_129819383.htm
37 de Freitas C, Dos Reis V, Silva S, et al. Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation. BMC Health Serv Res 2017;17:611–82.
38 Yang Y, Kang Q, Hu J, et al. Accessibility of drugs for rare diseases in China: Policies and current situation. Intractable rare Dis Res 2019;8:80–8.
39 WASTFELT M, FADEEL B, HENTER J-I. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med 2006;260:1–10.