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

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Subject: 5 R37 DK34045/DK/NIDDK NIH HHS/United States[Gran - PubMed

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Results by year

Year	Number of Results
1996	1
1997	2
1998	6
1999	5
2000	4
2001	8
2002	2
2003	2
2004	4
2005	1
2006	2
2007	2
2009	2
2024	0

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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.

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.

Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Schiffmann R, et al. Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. doi: 10.1093/ndt/gfp031. Epub 2009 Feb 13. Nephrol Dial Transplant. 2009. PMID: 19218538 Free PMC article.

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.

Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Grace ME, et al. Hum Mutat. 2007 Sep;28(9):866-73. doi: 10.1002/humu.20524. Hum Mutat. 2007. PMID: 17464953

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.

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick RJ. Laradi S, et al. J Inherit Metab Dis. 2005;28(6):1019-26. doi: 10.1007/s10545-005-0197-4. J Inherit Metab Dis. 2005. PMID: 16435195

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ. Laradi S, et al. Mol Genet Metab. 2006 Mar;87(3):213-8. doi: 10.1016/j.ymgme.2005.11.001. Mol Genet Metab. 2006. PMID: 16378744

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.

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

Prolonged postpartum proteinuria after early preeclampsia.

Durham JH, Desnick RJ, Imbriano L, Wasserstein M, D'Agati VD, Markowitz GS. Durham JH, et al. Am J Kidney Dis. 2004 Jan;43(1):186-91. doi: 10.1053/j.ajkd.2003.08.048. Am J Kidney Dis. 2004. PMID: 14712456 No abstract available.

Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.

Meehan SM, Junsanto T, Rydel JJ, Desnick RJ. Meehan SM, et al. Am J Kidney Dis. 2004 Jan;43(1):164-71. doi: 10.1053/j.ajkd.2003.09.022. Am J Kidney Dis. 2004. PMID: 14712441

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