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Results by year

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

Year Number of Results
1970 3
1971 3
1972 7
1973 9
1974 4
1975 5
1976 6
1977 8
1978 9
1979 13
1980 12
1981 14
1982 26
1983 7
1984 13
1985 10
1986 15
1987 10
1988 6
1989 9
1990 8
1991 15
1992 20
1993 8
1994 7
1995 14
1996 12
1997 19
1998 16
1999 19
2000 16
2001 19
2002 16
2003 12
2004 19
2005 10
2006 12
2007 8
2008 3
2009 11
2010 20
2011 15
2012 10
2013 19
2014 11
2015 16
2016 16
2017 17
2018 20
2019 19
2020 13
2021 7
2022 4
2023 6
2024 2

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Article attribute

Article type

Publication date

Search Results

599 results

Results by year

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Page 1
Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Ortiz A, et al. Among authors: desnick rj. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Mol Genet Metab. 2018. PMID: 29530533 Free article. Review.
Types A and B Niemann-Pick disease.
Schuchman EH, Desnick RJ. Schuchman EH, et al. Among authors: desnick rj. Mol Genet Metab. 2017 Jan-Feb;120(1-2):27-33. doi: 10.1016/j.ymgme.2016.12.008. Epub 2016 Dec 16. Mol Genet Metab. 2017. PMID: 28164782 Free PMC article. Review.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: desnick rj. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ. Benjamin ER, et al. Among authors: desnick rj. Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657681 Free PMC article.
Congenital erythropoietic porphyria.
To-Figueras J, Erwin AL, Aguilera P, Millet O, Desnick RJ. To-Figueras J, et al. Among authors: desnick rj. Liver Int. 2024 May 8. doi: 10.1111/liv.15958. Online ahead of print. Liver Int. 2024. PMID: 38717058 Review.
Wang B, Balwani M, Bonkovsky HL, Anderson KE, Bloomer JR, Bissell DM, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Wang B, et al. Among authors: desnick rj. Hepatology. 2018 Feb;67(2):803-804. doi: 10.1002/hep.29674. Epub 2018 Jan 2. Hepatology. 2018. PMID: 29159969 No abstract available.
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; Fabry Disease Clinical Trial Study Group. Banikazemi M, et al. Among authors: desnick rj. Ann Intern Med. 2007 Jan 16;146(2):77-86. doi: 10.7326/0003-4819-146-2-200701160-00148. Epub 2006 Dec 18. Ann Intern Med. 2007. PMID: 17179052 Free article. Clinical Trial.
Dersimelagon in Erythropoietic Protoporphyrias.
Balwani M, Bonkovsky HL, Levy C, Anderson KE, Bissell DM, Parker C, Takahashi F, Desnick RJ, Belongie K; Endeavor Investigators. Balwani M, et al. Among authors: desnick rj. N Engl J Med. 2023 Apr 13;388(15):1376-1385. doi: 10.1056/NEJMoa2208754. N Engl J Med. 2023. PMID: 37043653 Clinical Trial.
Congenital erythropoietic porphyria: Recent advances.
Erwin AL, Desnick RJ. Erwin AL, et al. Among authors: desnick rj. Mol Genet Metab. 2019 Nov;128(3):288-297. doi: 10.1016/j.ymgme.2018.12.008. Epub 2018 Dec 27. Mol Genet Metab. 2019. PMID: 30685241 Free PMC article. Review.
599 results