Melnikova, I. Rare diseases and orphan drugs. Nat Rev Drug Discov.2012;11, 267–268.
Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and definitions—a systematic global review: report of the ISPOR rare disease special interest group. Value in Health, 2015;18(6): 906-914.
Ma D, Li DG, Zhang X, He L. Opportunities and challenges in the prevention and treatment of rare diseases in China (in Chinese). Chinese Journal of Evidence-based Pediatrics. 2011; 6:81-82.
Abbott A. Rare-disease project has global ambitions. Nature. 2011; 472(7341):17.
 Stevens S, Miller N, Rashbass J. development and progress of the national Congenital anomaly and rare disease registration service. Archives of disease in childhood, 2018;103(3): 215-217.
He JJ, Song P, Kang Q, Zhang X, Hu JH, Yang Y, et al. Overview on social security system of rare diseases in China. Bioscience trends, 2019; 13(4):314-323.
 Schieppati A, Henter J I, Daina E, Aperia A. Why rare diseases are an important medical and social issue. The Lancet, 2008;371(9629): 2039-2041.
 Sood S, Lim R, Collins L, Trajanovska M, Hutson JM, Teague WJ, et al. The long-term quality of life outcomes in adolescents with Hirschsprung disease. Journal of pediatric surgery.2018; 53(12): 2430-2434.
 Rajmil L, Perestelo-Pérez L, Herdman M. Quality of life and rare diseases. Advances in experimental medicine and biology.2010;686: 251-272.
 Varni J W, Burwinkle T M, Seid M, Skarr D. The PedsQL™* 4.0 as a pediatric population health measure: feasibility, reliability, and validity. Ambulatory pediatrics.2003;3(6): 329-341.
Rudolph T, Larsen J P, Farbu E. The long‐term functional status in patients with Guillain‐Barré syndrome. European journal of neurology. 2008; 15(12): 1332-1337.
 Aslan BI, Gülsen A, Tirank SB, Findikçioglu K, Uzuner FD, Tutar H, et al. Family functions and life quality of parents of children with cleft lip and palate. Journal of Craniofacial Surgery. 2018;29(6): 1614-1618.
Tran VQ, Mahler T, Dassonville M, Truong DQ, Robert A, Goyens P, et al. Long-term outcomes and quality of life in patients after soave pull-through operation for Hirschsprung's disease: an observational retrospective study. European journal of pediatric surgery. 2018; 28(05): 445-454.
 Storch E, Keeley M, Merlo L, Jacob M, Correia C, & Weinstein D. Psychosocial functioning in youth with glycogen storage disease type I. Journal of Pediatric Psychology.2008; 33(7): 728-738.
Sluys KP, Lannge M, Iselius L, Eriksson LE. Six years beyond pediatric trauma: child and parental ratings of children’s health-related quality of life in relation to parental mental health. Quality of Life Research.2015;24(11): 2689-2699.
Orphanet. Search for a rare disease[Internet]. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN. Cited 03-15-2018.
Varmi JW, Seid M, Kurtin P. PedsQLTM 4.0: Reliability and validity of the Pediatric Quality of Life InventoryTM Version 4.0 Generic Core Scales in healthy and patient populations. Medical Care.2001; 39: 800-812.
Reinfjell T, Diseth T H, Veenstra M, Vikan A. Measuring health-related quality of life in young adolescents: Reliability and validity in the Norwegian version of the Pediatric Quality of Life Inventory™ 4.0 (PedsQL) generic core scales. Health and quality of life outcomes. 2006;4(1): 61.
 Varni JW, Limbers CA. The Pediatric Quality of Life Inventory: measuring pediatric health-related quality of life from the perspective of children and their parents. Pediatric Clinics of North America. 2009; 56:843–63.
 Berkes A, Pataki I, Kiss M, Kemény C, Kardos L, Varni JW, et al. Measuring health-related quality of life in Hungarian children with heart disease: psychometric properties of the Hungarian version of the Pediatric Quality of Life Inventory™ 4.0 Generic Core Scales and the Cardiac Module. Health and quality of life outcomes. 2010; 8(1): 14.
Engelen V, Haentjens MM, Detmar SB, Koopman HM, Grootenhuis MA. Health related quality of life of Dutch children: psychometric properties of the PedsQL in the Netherlands[J]. BMC pediatrics, 2009; 9(1): 68.
 Sheldrick RC, Neger EN, Shipman D, Perrin EC. Quality of life of adolescents with autism spectrum disorders: Concordance among adolescents’ self-reports, parents’ reports, and parents’ proxy reports. Quality of Life Research.2012; 21(1): 53-57.
Eiser C, Morse R. Can parents rate their child's health-related quality of life? Results of a systematic review. Quality of life research. 2001;10(4): 347-357.
Varni JW, Limbers CA, Burwinkle TM. Parent proxy-report of their children's health-related quality of life: an analysis of 13,878 parents' reliability and validity across age subgroups using the PedsQL™ 4.0 Generic Core Scales. Health and quality of life outcomes.2007; 5(1): 2.
Mussatto K. Adaptation of the child and family to life with a chronic illness. Cardiol. Young 2006; 16 (S3): 110-116.
Chan LF, Chow SM, Lo SK. Preliminary validation of the Chinese version of the pediatric quality of life inventory. International Journal of Rehabilitation Research. 2005;28(3):219-227.
Chen YM, He LP, Mai JC, Hao YT, Xiong LH, Chen WQ, Wu JN. Validity and reliability of pediatric quality of life inventory version 4.0 generic core scales in Chinese children and adolescents. Zhonghua Liu Xing Bing Xue Za Zhi.2008;29:560-3.
 Huang Y, Zhong XN, Li QY, Xu D, Zhang X L, Feng C, et al. Health-related quality of life of the rural-China left-behind children or adolescents and influential factors: a cross-sectional study. Health and quality of life outcomes. 2015;13(1): 29.
Wu H, Li H, Gao Q. Psychometric properties of the Chinese version of the pediatric quality of life inventory 4.0 Generic core scales among children with short stature. Health and quality of life outcomes.2013;11(1): 87.
Ji Y, Chen S, Li K, Xiao N, Yang X, Zheng S, et al. Measuring health-related quality of life in children with cancer living in Mainland China: feasibility, reliability and validity of the Chinese Mandarin version of PedsQL 4.0 Generic Core Scales and 3.0 Cancer Module. Health and quality of life outcomes.2011; 9(1): 103.
 Sundaram SS, Alonso EM, Haber B, Magee JC, Fredericks E, Kamath B, et al. Health related quality of life in patients with biliary atresia surviving with their native liver. The Journal of pediatrics. 2013; 163(4): 1052-1057.
 Zhang H, Wang L, Quan M, Huang J, Wu P, Lu Q, et al. Health-related quality of life in children with chronic immune thrombocytopenia in China. Health and quality of life outcomes. 2016; 14(1): 45.
Mills JLA , Konkin DE, Milner R, Penner JG, Langer M, Webber EM. Long-term bowel function and quality of life in children with Hirschsprung's disease. Journal of pediatric surgery. 2008; 43(5): 899-905.
Achenbach TM, McConaughy SH, Howell CT. Child/adolescent behavioral and emotional problems: Implications of cross-informant correlations for situational specificity. Psychological bulletin.1987; 101(2), 213-232.
Theunissen NCM, Vogels TGC, Koopman HM, Verrips GHW, Zwinderman KAH, Verloove-Vanmhorick SP, et al. The proxy problem: Child reports versus parent report in health-related quality of life research. Quality of Life Research. 1998;7(5),387-397.
Krol Y, Grootenhuis MA, DestrÉe-Vonk A, Lubbers LJ, Koopman HM, Last BF. Health related quality of life in children with congenital heart disease. Psychology and Health. 2003; 18(2): 251-260.
 Collins L, Collis B, Trajanovska M, Khanal R, Hutson JM, Teague W, et al. Quality of life outcomes in children with Hirschsprung disease. Journal of pediatric surgery.2017;52(12): 2006-2010.
 Neunert CE, Buchanan GR, Blanchette V, Barnard D, Young NL, Curtis C, et al. Relationships among bleeding severity, health‐related quality of life, and platelet count in children with immune thrombocytopenic purpura. Pediatric blood & cancer.2009; 53(4): 652-654.
Michel M. Immune thrombocytopenic purpura: epidemiology and implications for patients. European Journal of Haematology. 2009;82: 3-7.
 Kwon EN, Mussatto K, Simpson PM, Brosig C, Nugent M, Samyn MM. Children and adolescents with repaired tetralogy of fallot report quality of life similar to healthy peers. Congenital heart disease. 2011;6(1): 18-27.
 Collett BR, Cloonan YK, Speltz ML, Anderka M, Werler MM. Psychosocial functioning in children with and without orofacial clefts and their parents. The Cleft palate-craniofacial journal.2012; 49(4), 397-405.
 Hunt O, Burden D, Hepper P, Stevenson M, Johnston C. Parent reports of the psychosocial functioning of children with cleft lip and/or palate. The Cleft palate-craniofacial journal. 2007;44(3):304-311.
Miatton M, De Wolf D, François K, Thiery E, Vingerhoets G. Intellectual, neuropsychological, and behavioral functioning in children with tetralogy of Fallot. The Journal of thoracic and cardiovascular surgery. 2007;133(2), 449-455.
 Roodbol J, de Wit MCY, Aarsen FK, Catsman-Berrevoets CE, Jacobs BC. Long-term outcome of Guillain-Barré syndrome in children. Journal of the Peripheral Nervous System. 2014;19(2): 121-126.
Khalil M. Long-term health-related quality of life for patients with Hirschsprung’s disease at 5 years after transanal endorectal pull-through operation. Quality of Life Research. 2015; 24(11): 2733-2738.
 Damiano PC, Tyler MC, Romitti PA, Momany ET, Jones MP, Canady JW, et al. Health-related quality of life among preadolescent children with oral clefts: the mother's perspective. Pediatrics. 2007; 120(2): e283-e290.
 Ma Z, Zheng XY. Analysis of the health service utilization among patients with rare diseases and the influencing factors in China (in Chinese). Chinese Journal of Health Policy.2018; 11(11):60-64.
 Shao WB, Li YY, Wang F, Zhu YJ, Xiao L,Huang RF. The current situation and suggestions on orphan drug availability in China (in Chinese). Food & Drug Administration Magazine. 2019; 181(02):10-17.
 Wang P, Zhang YF. On the Coping Strategies of Rare Diseases in Britain and Its Enlightenment to China (in Chinese). Medicine & Jurisprudence.2016; 8(2):70-75.