References
- Humphreys G. Coming together to combat rare diseases. Bull World Health Organ. 2012 Jun;90(6):406–407.
- Song P, Gao J, Inagaki Y, et al. Intractable and rare diseases research in Asia. Biosci Trends. 2012 Apr;6(2):48–51.
- Lv A, Hao C, Qian H, et al. Castleman disease of the mesentery as the great mimic: incidental finding of one case and the literature review. Biosci Trends. 2015 Jun;9(3):198–202.
- Wang R, Qi X, Liu X, et al. Peutz-Jeghers syndrome: four cases in one family. Intractable Rare Dis Res. 2016 Feb;5(1):42–43.
- Aktas H, Inci S, Dogan P, et al. Spontaneous rectus sheath hematoma in a patient treated with apixaban. Intractable Rare Dis Res. 2016 Feb;5(1):47–49.
- Rare Diseases Europe. About rare diseases. [cited 2015 Dec 23]. Available from http://www.eurordis.org
- Mei L, Song P, Kokudo N, et al. Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan. Intractable Rare Dis Res. 2013 Nov;2(4):106–114.
- Mei L, Song P, Xu L. Newborn screening and related policy against Phenylketonuria in China. Intractable Rare Dis Res. 2013 Aug;2(3):72–76.
- Song P. The ice bucket challenge: the public sector should get ready to promptly promote the sustained development of a system of medical care for and research into rare diseases. Intractable Rare Dis Res. 2014 Aug;3(3):94–96.
- Hammoudah SA, El-Attar LM. Infantile systemic hyalinosis: report of two severe cases from Saudi Arabia and review of the literature. Intractable Rare Dis Res. 2016 May;5(2):124–128.
- Ermis E, Demirelli S, Korkmaz AF, et al. An isolated single L-II type coronary artery anomaly: a rare coronary anomaly. Intractable Rare Dis Res. 2015 Nov;4(4):203–206.
- Li Y, Cui Y, Wang C, et al. A risk factor analysis on disease severity in 47 premature infants with bronchopulmonary dysplasia. Intractable Rare Dis Res. 2015 May;4(2):82–86.
- Jin X, Chen L. Fragile X syndrome as a rare disease in China - therapeutic challenges and opportunities. Intractable Rare Dis Res. 2015 Feb;4(1):39–48.
- Wang JB, Guo JJ, Yang L, et al. Rare diseases and legislation in China. Lancet. 2010;375:708–709.
- Matsui A. Research on economy and social exclusion: China dolls and rare diseases. Intractable Rare Dis Res. 2013 Feb;2(1):30–32.
- Kintsler S, Jäkel J, Brandenburg V, et al. Cardiac amyloidosis in a heart transplant patient - A case report and retrospective analysis of amyloidosis evolution. Intractable Rare Dis Res. 2015 Feb;4(1):60–64.
- Jh YZ, Sx SH. Social security system of rare diseases in European Union and its implications for China. Chin J Health Policy. 2012;5:52–59.
- The “China Dream” of rare diseases patients [cited 2015 Dec 02]. Available from: http://shszx.eastday.com/node2/node4810/node4851/wswh/u1ai60512.html
- Berglund B. The diagnostic gap - an expert opinion. Expert Opin Orphan Drugs. 2014;2:1131–1133.
- Zhao H, Cui Y, Zhou X, et al. Study and analysis of the state of rare disease research in Shandong Province, China. Intractable Rare Dis Res. 2012 Nov;1(4):161–166.
- Tang W, Makuuchi M. Intractable and rare diseases research. Intractable Rare Dis Res. 2012;1:1–2.
- Nakatani H, Kondo T. Characteristics of a medical care program for specific diseases in Japan in an era of changing cost-sharing. Health Policy (New York). 2003 Jun;64(3):377–389.
- Gong S, Jin S. Current progress in the management of rare diseases and orphan drugs in China. Intractable Rare Dis Res. 2012 May;1(2):45–52.
- Tang W. Hopes for intractable and rare diseases research. Intractable Rare Dis Res. 2013 Feb;2(1):1–2.
- Schieppati A, Henter JI, Daina E, et al. Why rare diseases are an important medical and social issue. Lancet. 2008 Jun 14;371(9629):2039–2041.
- Song P, Gao J, Inagaki Y, et al. Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives. Intractable Rare Dis Res. 2012 Feb;1(1):3–9.
- Rare diseases act of 2002. [cited 2015 Dec 15] Available from: http://history.nih.gov/research/downloads/PL107-280.pdf
- Useful information on rare diseases from an EU perspective (2004). [cited 2015 Dec 14] Avaialble from: http://ec.europa.eu/health/ph_information/documents/ev20040705_rd05_en.pdf
- Definition of Nanbyo. [cited 2015 Dec 1] Available from: http://www.nanbyou.or.jp/english/index.htm
- Xiao H, Xue Y, Gu S, et al. Efficacy and safety of antiretroviral regimens including raltegravir to treat HIV-infected patients with hemophilia. Biosci Trends. 2016 Mar 10;10(1):42–46.
- Japan Intractable Diseases Information Center. Program for research on treatment of 130 specified diseases. [cited 2015 Dec 12] Available from http://www.nanbyou.or.jp/entry/511
- Kodama T, Tomita N. Global movement for diagnosis and treatment of rare/intractable diseases. J Natl Inst Public Health. 2011;60:105–111. in Japanese.
- Marconi B, Bobyr I, Campanati A, et al. Pseudoxanthoma elasticum and skin: clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Intractable Rare Dis Res. 2015 Aug;4(3):113–122.
- Orphanet. Disease registries in Europe. [cited 2015 Dec 14] Avaialble from: http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf
- National Health and Family Planning Commission. Administrative measures for neonatal disease screening. [cited 2015 Dec 24] Available from: http://www.moh.gov.cn/mohzcfgs/pgz/200903/39322.shtml
- National Health and Family Planning Commission. Report on prevention of birth defects in China (2012). Available from: [cited 2015 Dec 24]. http://www.moh.gov.cn/wsb/pxwfb/201209/55840/files/0af7007b1a68469397531b154d9425f9.pdf
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University. An introduction to phenylketonuria (PKU). [cited 2015 Dec 24] Available from: http://www.bjogh.com.cn/zs/fybj/yyebj/20131112/32348.shtml
- Wang C, Cui Y, Li Y, et al. A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model. Intractable Rare Dis Res. 2015 May;4(2):76–81.
- Rare Diseases branch of the Beijing Medical Association. [cited 2015 Dec 13] Available from: http://www.bjhjb.org.cn/index.php?m=content&c=index&a=show&catid=23&id=17
- China Dolls Center for Rare Disorders [cited 2015 Dec 15]. Available from: http://www.google.com.hk/url?sa=t&rct=j&q=&esrc=s&frm=1&source=web&cd=1&cad=rja&uact=8&ved=0CB0QFjAA&url=http%3A%2F%2Fchinadolls.org.cn%2Fattachment%2Fdownload%3Fid%3D28&ei=8LdAVM2aPIbj8gWxwICIAQ&usg=AFQjCNFYrRTYQDIiJ5Cm066grk1JfrBe1A
- The China Dolls Center for Rare Disorders. [cited 2015 Dec 17]. Available from: http://chinadolls.org.cn/type/10009
- NSFC. [cited 2016 Mar 17] Available from: http://www.nsfc.gov.cn
- Database of the MHLW Grants System. [cited 2016 Mar 19] Available from: http://mhlw-grants.niph.go.jp/
- Research on intractable liver diseases. [cited 2016 Mar 2] Available from: http://mhlw-grants.niph.go.jp/niph/search/NIDD00.do?resrchNum=201231041A
- Number of patients enrolled in the Program for Research on Treatment of Specified Diseases. [cited 2016 Mar 2]. Available from: http://www.nanbyou.or.jp/entry/1356#p09
- Association CR. Guidelines for diagnosis and treatment of autoimmune hepatitis. Chin J Rheumatol. 2011;15(8):556–558. in Chinese
- Chinese Rheumatology Association. Guidelines for diagnosis and treatment of White’s disease. Chin J Rheumatol. 2011;15(5):345–347. in Chinese
- National Health and Family Planning Commission. Clinical pathway for treatment of myasthenia gravis. [cited 2016 Jan 2]. Available from: http://www.google.com.hk/url?sa=t&rct=j&q=&esrc=s&frm=1&source=web&cd=4&ved=0CDUQFjAD&url=http%3A%2F%2Fwww.hnma.org.cn%2Flclj%2FPapers%2FDisease%2F2011080564127313.doc&ei=eRJGVIHTKaTNmwXQ5YCgDA&usg=AFQjCNFhMbaQ482hyZmCuQA2G28IpoeTTg
- Chinese Rheumatology Association. Guidelines for diagnosis and treatment of systemic lupus erythematosus. Chin J Rheumatol. 2010;14(5):342–346. in Chinese
- Chinese Rheumatology Association. Guidelines for diagnosis and treatment of amyotrophic lateral sclerosis in China. Chin J Neurol. 2012;45(7):531–533. in Chinese
- National Health and Family Planning Commission. . [cited 2016 Jan 12]. Available from: http://wsb.moh.gov.cn/wsb/pwsyw/201009/49183.shtml
- Chinese Rheumatology Association. Guidelines for diagnosis and treatment of polyarteritis nodosa. Chin J Rheumatol. 2011;15(3):192–193. in Chinese
- Chinese Society of Dermatology. Clinical pathway for treatment of pemphigus vulgaris. [cited 2016 Jan 14]. Avaialble from: http://csd.cma.org.cn/contents/32/744.html
- Chinese Rheumatology Association. Diagnosis and treatment guidelines for Wegener’s granulomatosis. Chin J Rheumatol. 2011;15(3):194–196. in Chinese
- Chinese society of Dermatology. Diagnosis and treatment guidelines for psoriasis in China. Chin J Dermatol. 2009;43(3):213–214. in Chinese
- Chinese Rheumatology Association. Diagnosis and treatment guidelines for mixed connective tissue disease. Chin J Rheumatol. 2011;15(1):42–45. in Chinese
- Chinese Experts Cooperation Group of Fabry disease. Expert consensus on Fabry disease in China. Chin Med J. 2013;93(4):243–247. in Chinese
- Chinese society of neurology. Diagnosis and treatment guidelines for chronic inflammatory demyelinating polyneuropathy. Chin J Neurol. 2010;43(8):586–588. in Chinese
- Chinese society of neurosurgery. Diagnosis and treatment guidelines for acromegaly in China. Chin J Neurosurg. 2013;29(10):975–979. in Chinese
- Liu X, Cui Y, Li Y, et al. Using inpatient data to estimate the prevalence of Wegener’s granulomatosis in China. Intractable Rare Dis Res. 2016 Feb;5(1):31–35.
- Xinhua Online. [cited 2016 Jan 22]. Avaialble from: http://news.xinhuanet.com/2014-02/25/c_126188730.htm
- Beijing Daily. [cited 2016 Jan 22]. Available from: http://bjrb.bjd.com.cn/html/2013-03/01/content_52343.htm
- Xinhua Online. [cited 2016 Jan 25]. Available from: http://www.gd.xinhuanet.com/newscenter/2014-09/11/c_1112438875.htm
- Yang L, Su C, Lee AM, et al. Focusing on rare diseases in China: are we there yet? Orphanet J Rare Dis. 2015 Nov 2;10:142.
- Council Recommendation on action in the field of rare diseases. [cited 2016 Jan 21]. Avaialble from: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF
- EUROPLAN Project. [cited 2016 Jan 21]. Avaialble from: http://www.europlanproject.eu/Content?folder=1
- EURODIS Advisory Group. Minimum requirements and recommended content for the WORKSHOPS of EUROPLAN national conferences. [cited 2016 Jan 11]. Available from: http://download.eurordis.org/europlan/3_EURORDIS_Guidance_Documents_for_the_National_Conference/01_Content_Outline_of_EUROPLAN_National_Conferences.pdf
- Gao JJ, Song PP, Tang W. Rare disease patients in China anticipate the sunlight of legislation. Drug Discov Ther. 2013 Jun;7(3):126–128.
- Cai W, Jiang B, Yu F, et al. Current approaches to the diagnosis and treatment of white sponge nevus. Expert Rev Mol Med. 2015 May;17(e9):1–9.
- Chen K, Yao L, Liu Z. Towards government-funded special biomedical research programs to combat rare diseases in China. Biosci Trends. 2015 Apr;9(2):88–90.
- Bremond-Gignac D, Lewandowski E, Copin H. Contribution of electronic medical records to the management of rare diseases. Biomed Res Int. 2015 Oct;11:954283.
- Santoro M, Coi A, Lipucci Di Paola M, et al. Rare disease registries classification and characterization: a data mining approach. Public Health Genomics. 2015;18(2):113–122.
- Kesselheim AS, McGraw S, Thompson L, et al. Development and use of new therapeutics for rare diseases: views from patients, caregivers, and advocates. Patient. 2015 Feb;8(1):75–84.
- Gammie T, Lu CY, Babar ZU, et al. Access to orphan drugs: a comprehensive review of legislations, regulations and policies in 35 countries. PLoS One. 2015 Oct 9;10(10):e0140002.
- Puttipan R, Okonogi S. Antioxidant activity of Rafflesia kerrii flower extract. Drug Discov Ther. 2014 Feb;8(1):18–24.
- Masuguchi S, Jinnin M, Fukushima S, et al. The expression of HER-2 in extramammary Paget’s disease. Biosci Trends. 2011 Aug;5(4):151–155.
- Kotecha RS, Kees UR, Cole CH, et al. Rare childhood cancers–an increasing entity requiring the need for global consensus and collaboration. Cancer Med. 2015 Jun;4(6):819–824.
- Azzopardi-Muscat N, Brand H. Will European reference networks herald a new era of care for patients with rare and complex diseases? Eur J Public Health. 2015 Jun;25(3):362–363.
- World Health Organization. Coming together to combat rare diseasescited. [2016 Jan 21]. Available from: http://www.who.int/bulletin/volumes/90/6/12-020612/en/