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

Year Number of Results
1996 2
1997 3
1998 6
1999 5
2000 4
2001 10
2002 2
2003 4
2004 4
2005 4
2006 5
2007 2
2009 3
2010 2
2020 0
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53 results
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Page 1
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. 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.
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. 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.
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ; International Collaborative Fabry Disease Study Group. Eng CM, et al. N Engl J Med. 2001 Jul 5;345(1):9-16. doi: 10.1056/NEJM200107053450102. N Engl J Med. 2001. PMID: 11439963 Free article. Clinical Trial.
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Hwu WL, et al. Hum Mutat. 2009 Oct;30(10):1397-405. doi: 10.1002/humu.21074. Hum Mutat. 2009. PMID: 19621417 Free PMC article.
Future perspectives for Tay-Sachs disease.
Desnick RJ, Kaback MM. Desnick RJ, et al. Adv Genet. 2001;44:349-56. doi: 10.1016/s0065-2660(01)44091-0. Adv Genet. 2001. PMID: 11596996 Review. No abstract available.
Enzyme replacement and enhancement therapies for lysosomal diseases.
Desnick RJ. Desnick RJ. J Inherit Metab Dis. 2004;27(3):385-410. doi: 10.1023/B:BOLI.0000031101.12838.c6. J Inherit Metab Dis. 2004. PMID: 15190196 Review.
Prenatal genetic screening in the Ashkenazi Jewish population.
Zinberg RE, Kornreich R, Edelmann L, Desnick RJ. Zinberg RE, et al. Clin Perinatol. 2001 Jun;28(2):367-82. doi: 10.1016/s0095-5108(05)70089-0. Clin Perinatol. 2001. PMID: 11499058 Review.
Fabry disease: clinical features and recent advances in enzyme replacement therapy.
Desnick RJ, Wasserstein MP. Desnick RJ, et al. Adv Nephrol Necker Hosp. 2001;31:317-39. Adv Nephrol Necker Hosp. 2001. PMID: 11692469 Review. No abstract available.
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Ashley GA, et al. J Hum Genet. 2001;46(4):192-6. doi: 10.1007/s100380170088. J Hum Genet. 2001. PMID: 11322659 Review.
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Desnick RJ, et al. Ann Intern Med. 2003 Feb 18;138(4):338-46. doi: 10.7326/0003-4819-138-4-200302180-00014. Ann Intern Med. 2003. PMID: 12585833 Free article. Review.
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