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1
Rare diseases research in China: Opportunities, challenges, and solutions.
Intractable Rare Dis Res. 2012 Feb;1(1):10-2. doi: 10.5582/irdr.2012.v1.1.10.
2
Orphan drug development in China - Turning challenges into opportunities.
Intractable Rare Dis Res. 2016 Nov;5(4):308-313. doi: 10.5582/irdr.2016.01025.
3
National Rare Diseases Registry System of China and Related Cohort Studies: Vision and Roadmap.
Hum Gene Ther. 2018 Feb;29(2):128-135. doi: 10.1089/hum.2017.215.
4
China has officially released its first national list of rare diseases.
Intractable Rare Dis Res. 2018 May;7(2):145-147. doi: 10.5582/irdr.2018.01056.
5
Challenges in orphan drug development and regulatory policy in China.
Orphanet J Rare Dis. 2017 Jan 18;12(1):13. doi: 10.1186/s13023-017-0568-6.
6
[Healthy China 2030 critical care medicine: challenges accepted--40-year-chronicle of critical care medicine in China].
Zhonghua Wei Zhong Bing Ji Jiu Yi Xue. 2019 Jul;31(7):793-800. doi: 10.3760/cma.j.issn.2095-4352.2019.07.001.
7
The availability and affordability of orphan drugs for rare diseases in China.
Orphanet J Rare Dis. 2016 Feb 27;11:20. doi: 10.1186/s13023-016-0392-4.
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[Current views on rare diseases research and orphan drugs development].
Sheng Wu Gong Cheng Xue Bao. 2011 May;27(5):724-9.
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Accessibility of drugs for rare diseases in China: Policies and current situation.
Intractable Rare Dis Res. 2019 May;8(2):80-88. doi: 10.5582/irdr.2019.01068.
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Rare but not to be overlooked: Epidemiology and strategies for rare dermatological diseases in China.
Intractable Rare Dis Res. 2025 Aug 31;14(3):151-161. doi: 10.5582/irdr.2025.01039.
2
Health Policies for Rare Disease Patients: A Scoping Review.
Int J Environ Res Public Health. 2022 Nov 17;19(22):15174. doi: 10.3390/ijerph192215174.
5
Defining rare diseases in China.
Intractable Rare Dis Res. 2017 May;6(2):148-149. doi: 10.5582/irdr.2017.01009.
6
Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities.
Intractable Rare Dis Res. 2015 Feb;4(1):39-48. doi: 10.5582/irdr.2014.01037.
8
Study and analysis of the state of rare disease research in Shandong Province, China.
Intractable Rare Dis Res. 2012 Nov;1(4):161-6. doi: 10.5582/irdr.2012.v1.4.161.
9
China launched a pilot project to improve its rare disease healthcare levels.
Orphanet J Rare Dis. 2014 Jan 27;9:14. doi: 10.1186/1750-1172-9-14.

本文引用的文献

3
China's first rare-disease registry is under development.
Lancet. 2011 Aug 27;378(9793):769-70. doi: 10.1016/S0140-6736(11)61375-5.
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Exome sequencing identifies ZNF644 mutations in high myopia.
PLoS Genet. 2011 Jun;7(6):e1002084. doi: 10.1371/journal.pgen.1002084. Epub 2011 Jun 9.
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Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
J Invest Dermatol. 2011 Jul;131(7):1570-2. doi: 10.1038/jid.2011.62. Epub 2011 Mar 24.
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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.
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The case for a global rare-diseases registry.
Lancet. 2011 Mar 26;377(9771):1057-9. doi: 10.1016/S0140-6736(10)60680-0. Epub 2010 Jul 30.
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Genomewide association study of leprosy.
N Engl J Med. 2009 Dec 31;361(27):2609-18. doi: 10.1056/NEJMoa0903753. Epub 2009 Dec 16.

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