Outcomes and management of kidney transplant recipients with Fabry disease: a review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
https://link.springer.com/content/pdf/10.1007/s40620-023-01853-z.pdf
Reference79 articles.
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2. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry’s disease Ceramidetrihexosidase deficiency. N Engl J Med 276(21):1163–1167
3. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138(4):338–346
4. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A et al (2018) Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 123(4):416–427
5. Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ (2018) Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. J Med Genet 55(4):261–268
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