Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

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 21
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 4
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

602 results

Results by year

Filters applied: . Clear all
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.
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.
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.
Anderson-Fabry disease management: role of the cardiologist.
Pieroni M, Namdar M, Olivotto I, Desnick RJ. Pieroni M, et al. Among authors: desnick rj. Eur Heart J. 2024 Apr 21;45(16):1395-1409. doi: 10.1093/eurheartj/ehae148. Eur Heart J. 2024. PMID: 38486361 Review.
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 Aug;44(8):1842-1855. doi: 10.1111/liv.15958. Epub 2024 May 8. Liver Int. 2024. PMID: 38717058 Review.
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.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Germain DP, et al. Among authors: desnick rj. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795794 Free PMC article. Clinical Trial.
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. Spada M, et al. Among authors: desnick rj. Am J Hum Genet. 2006 Jul;79(1):31-40. doi: 10.1086/504601. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16773563 Free PMC article.
Congenital Erythropoietic Porphyria.
Erwin A, Balwani M, Desnick RJ; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Erwin A, et al. Among authors: desnick rj. 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24027798 Free Books & Documents. Review.
602 results