Desnick RJ - Search Results

1

Long-term Outcomes of Kidney Transplantation in Fabry Disease.

Ersözlü S, Desnick RJ, Huynh-Do U, Canaan-Kühl S, Barbey F, Genitsch V, Mueller TF, Cheetham M, Flammer AJ, Schaub S, Nowak A. Ersözlü S, et al. Among authors: desnick rj. Transplantation. 2018 Nov;102(11):1924-1933. doi: 10.1097/TP.0000000000002252. Transplantation. 2018. PMID: 29688992 Free article.

2

Fabry disease: molecular genetics of the inherited nephropathy.

Desnick RJ, Astrin KH, Bishop DF. Desnick RJ, et al. Adv Nephrol Necker Hosp. 1989;18:113-27. Adv Nephrol Necker Hosp. 1989. PMID: 2564247 Review.

3

Pulmonary involvement in Fabry disease.

Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G, Eng CM, Desnick RJ. Brown LK, et al. Among authors: desnick rj. Am J Respir Crit Care Med. 1997 Mar;155(3):1004-10. doi: 10.1164/ajrccm.155.3.9116979. Am J Respir Crit Care Med. 1997. PMID: 9116979

4

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. Among authors: desnick rj. J Hum Genet. 2001;46(4):192-6. doi: 10.1007/s100380170088. J Hum Genet. 2001. PMID: 11322659 Review.

5

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. Among authors: desnick rj. 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.

6

Enzyme replacement therapy for Fabry disease, an inherited nephropathy.

Desnick RJ, Banikazemi M, Wasserstein M. Desnick RJ, et al. Clin Nephrol. 2002 Jan;57(1):1-8. doi: 10.5414/cnp57001. Clin Nephrol. 2002. PMID: 11837797 Review.

7

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

Shabbeer J, Yasuda M, Luca E, Desnick RJ. Shabbeer J, et al. Among authors: desnick rj. Mol Genet Metab. 2002 May;76(1):23-30. doi: 10.1016/s1096-7192(02)00012-4. Mol Genet Metab. 2002. PMID: 12175777

8

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. Among authors: desnick rj. J Comput Assist Tomogr. 2004 Mar-Apr;28(2):158-68. doi: 10.1097/00004728-200403000-00002. J Comput Assist Tomogr. 2004. PMID: 15091117

9

Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.

Banikazemi M, Ullman T, Desnick RJ. Banikazemi M, et al. Among authors: desnick rj. Mol Genet Metab. 2005 Aug;85(4):255-9. doi: 10.1016/j.ymgme.2005.04.009. Mol Genet Metab. 2005. PMID: 15939645

10

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.

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