5Cybulla M, Schaefer E, Wendt S, et al. Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys. Am J Kidney Dis, 2005,45: 82-89. 被引量：1
6Branton M, Schiffman R, Kopp JB. Natural history and treatment of renal involvement in Fabry discase. J Am Soc Nephrol, 2002, 13(Suppl 2): s139-s143. 被引量：1
7Sessa A, Meroni M, Battini G, et al. Chronic renal failure, dialysis, and renal transplantation in Anderson - Fabry disease. Semin Nephrol, 2004, 24: 532-536. 被引量：1
8USAN Council. List No. 431. New names agalsidase alfa. Clin Pharmacol Ther,2000, 68(4): 456. 被引量：1
10Robert JD, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Annals Intern Med, 2003, 138: 338-346. 被引量：1
二级参考文献17
1Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease [J]. JAMA, 2000,284: 2771 被引量：1
2Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry 's disease. Ceramidetrihexosidase deficiency. N. Engl. J. Med,1967,276(21) :1163 被引量：1
3Steffes MW. Schmidt D, McCrery R,et al. Glomerular cell number in normal subjects and in type Ⅰ diabetic patients. Kidney Int, 2001,59:2104 被引量：1
4Pagtaluma ME, Miller PL, Jamping-Eagle S,et al. Podocyte loss and progressive glomerular injury in type Ⅱ diabetes. J Clin Invest, 1997, 90:342 被引量：1
5MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet,2001,38 :750 被引量：1
6Lao LM, Kumakiri M,Mima H,et al. The ultrastructural characteristics or eccrine sweat glands in a Fabry disease patient with hypohidrosis [J]. J Dermatol Sci,1998,18(2) :109 被引量：1
7Syed NA,Sandbrink F, Luciano CA, et al. Cutaneous silent periods in patients with Fabry disease. Muscle Nerve ,2000,23,1179 被引量：1
8Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry isease [J]. J Inherit Metab Dis, 2001,24 ( Suppl 2 ) :75 被引量：1
9Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of AndersonFabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation ,2002,105:1407 被引量：1
10Farge D,Nadlers,Wolfe LS,et al. Diagnostic value of kidney biopsy in heterozygous Fabry's disease. Arch Pathol Lab Med, 1985,109:85 被引量：1
7Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy[J].N Engl J Med, 1995, 333(12) :288 -293. 被引量：1
8Beck M, Ricci R, Widmer U, et al. Fabry disease :overall effects of agalsidase alfa treatment [J].Eur J Clin Invest, 2004, 34(12):838-844. 被引量：1
9Arad M, Maron B J, Gotham J M, et al. Glycogen storagediseases presenting as hypertrophic cardiomyopathy[J].N Engl J Med, 2005, 352(4) :362-372. 被引量：1
