R37 DK34045/DK/NIDDK NIH HHS/United States[Grants and Funding] - Search Results

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
2025	0

1

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.

2

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.

3

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.

4

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.

5

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.

6

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.

7

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Glass RB, et al. J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68. doi: 10.1097/00004728-200403000-00002. J Comput Assist Tomogr. 2004. PMID: 15091117

8

Gene therapy for genetic diseases.

Desnick RJ, Schuchman EH. Desnick RJ, et al. Acta Paediatr Jpn. 1998 Jun;40(3):191-203. doi: 10.1111/j.1442-200x.1998.tb01912.x. Acta Paediatr Jpn. 1998. PMID: 9695290 Review.

9

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.

10

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

Shabbeer J, Robinson M, Desnick RJ. Shabbeer J, et al. Hum Mutat. 2005 Mar;25(3):299-305. doi: 10.1002/humu.20144. Hum Mutat. 2005. PMID: 15712228

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