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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1867 1
1870 1
1878 1
1888 2
1909 1
1917 1
1933 1
1937 1
1942 1
1946 14
1947 7
1948 3
1949 5
1950 17
1951 24
1952 32
1953 39
1954 32
1955 32
1956 37
1957 29
1958 41
1959 33
1960 41
1961 35
1962 39
1963 60
1964 62
1965 36
1966 4
1967 5
1968 6
1969 5
1970 4
1971 3
1972 3
1973 4
1974 6
1975 42
1976 61
1977 64
1978 66
1979 55
1980 56
1981 54
1982 58
1983 71
1984 82
1985 98
1986 98
1987 107
1988 111
1989 161
1990 173
1991 194
1992 178
1993 241
1994 198
1995 220
1996 241
1997 244
1998 268
1999 277
2000 356
2001 351
2002 416
2003 590
2004 648
2005 810
2006 1018
2007 1127
2008 1338
2009 1199
2010 1485
2011 1647
2012 2002
2013 2262
2014 2829
2015 3114
2016 3351
2017 3681
2018 3939
2019 4358
2020 4899
2021 6185
2022 6842
2023 6946
2024 2406

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60,865 results

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2 articles found by citation matching

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Page 1
The burden of rare diseases.
Ferreira CR. Ferreira CR. Am J Med Genet A. 2019 Jun;179(6):885-892. doi: 10.1002/ajmg.a.61124. Epub 2019 Mar 18. Am J Med Genet A. 2019. PMID: 30883013 Review.
Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about rare diseases and their burden. We review the existing literature …
Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned web …
Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.
Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, Hughes DA; International Society for Pharmacoeconomics and Outcomes Research Rare Disease Special Interest Group. Richter T, et al. Value Health. 2015 Sep;18(6):906-14. doi: 10.1016/j.jval.2015.05.008. Epub 2015 Aug 18. Value Health. 2015. PMID: 26409619 Free article. Review.
BACKGROUND: At present, there is no universal definition of rare disease. OBJECTIVE: To provide an overview of rare disease definitions currently used globally. ...These findings highlight the existing diversity among definitions of rare dise
BACKGROUND: At present, there is no universal definition of rare disease. OBJECTIVE: To provide an overview of rare
Global effort against rare and orphan diseases.
Harari S, Cottin V, Humbert M. Harari S, et al. Eur Respir Rev. 2012 Sep 1;21(125):171-2. doi: 10.1183/09059180.00004112. Eur Respir Rev. 2012. PMID: 22941880 Free PMC article. No abstract available.
Rare ophthalmology diseases.
Sburlan EA, Voinea LM, Alexandrescu C, Istrate S, Iancu R, Pirvulescu R, Geamanu A, Ghita M, Ungureanu E, Radu C. Sburlan EA, et al. Rom J Ophthalmol. 2019 Jan-Mar;63(1):10-14. Rom J Ophthalmol. 2019. PMID: 31198892 Free PMC article. Review.
Rare disease registries are leading tools for the development of clinical research for rare diseases, improvement of patient access to new diagnostic methods, follow-up and new emerging therapies. As of this moment, the European list of rare
Rare disease registries are leading tools for the development of clinical research for rare diseases, improvemen
Development of orphan drugs for rare disease.
Yoo HW. Yoo HW. Clin Exp Pediatr. 2023 Jun 28. doi: 10.3345/cep.2023.00535. Online ahead of print. Clin Exp Pediatr. 2023. PMID: 37402468 Free article.
Most rare diseases(orphan diseases) still lack approved treatments despite major advances in research providing the tools to understand their molecular basis, as well as legislation providing regulatory and economic incentives to expedite the developme …
Most rare diseases(orphan diseases) still lack approved treatments despite major advances in research providing …
Editorial.
Plontke SK. Plontke SK. Laryngorhinootologie. 2021 Apr;100(S 01):S1. doi: 10.1055/s-1397-0832. Epub 2021 Apr 30. Laryngorhinootologie. 2021. PMID: 34352897 Free PMC article.
Rare diseases represent a major challenge for affected patients, their relatives, physicians, nursing staff, and therapists. ...The movie highlights the manifold problems associated with rare diseases - a large number of which still exist today. Howeve
Rare diseases represent a major challenge for affected patients, their relatives, physicians, nursing staff, and therapists. .
Disease awareness or subtle product placement? Orphan diseases featured in the television series "House, M.D." - a cross-sectional analysis.
Mechler K, Rausch J, Mountford WK, Ries M. Mechler K, et al. BMC Med Ethics. 2020 Mar 14;21(1):20. doi: 10.1186/s12910-020-0463-x. BMC Med Ethics. 2020. PMID: 32171294 Free PMC article.
RESULTS: Out of a total of n = 181 different medical diagnoses, n = 42 (23.2%) were orphan diseases. The difference in percentages in between "House, M.D." and reality was not statistically significant for orphan diseases overall (p = 0.96), yet was st …
RESULTS: Out of a total of n = 181 different medical diagnoses, n = 42 (23.2%) were orphan diseases. The difference in percent …
Post-approval Studies for Rare Disease Treatments and Orphan Drugs.
Maier WC, Christensen RA, Anderson P. Maier WC, et al. Adv Exp Med Biol. 2017;1031:197-205. doi: 10.1007/978-3-319-67144-4_11. Adv Exp Med Biol. 2017. PMID: 29214573 Review.
Post-approval studies are designed to address several limitations associated with the rare disease clinical trials.National and international regulatory agencies in the US and Europe have adopted similar approaches to requirements post-approval data for rare
Post-approval studies are designed to address several limitations associated with the rare disease clinical trials.National an …
Rare or orphan diseases -- a useful political concept.
Baxter P. Baxter P. Dev Med Child Neurol. 2012 Jul;54(7):579. doi: 10.1111/j.1469-8749.2012.04338.x. Epub 2012 May 19. Dev Med Child Neurol. 2012. PMID: 22607366 Free article. No abstract available.
Rare diseases and orphan drugs: Latvian story.
Logviss K, Krievins D, Purvina S. Logviss K, et al. Orphanet J Rare Dis. 2014 Sep 18;9:147. doi: 10.1186/s13023-014-0147-z. Orphanet J Rare Dis. 2014. PMID: 25231378 Free PMC article. Review.
Orphan diseases have been recognized as a priority area for action in the public health system, though there are significant differences in the national healthcare services for rare diseases among the EU States. ...RESULTS: National plan for rare
Orphan diseases have been recognized as a priority area for action in the public health system, though there are significant d
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