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• Nakao S, Takenaka T, Maeda M, Kodama: An Atypical Variant of Fabry’s Disease in Men with Left Ventricular Hypertrophy. The New England Journal of Medicine. 1995:288-293.
• Shelley ED, Shelley WB, Kurczynski TW. Painful Fingers, Heat Intolerance, and Telangiectases of the Ear: Easily Ignored Childhood Signs of Fabry Disease. Pediatric Dermatology. Vol. 12. No. 3: 215-219.
• Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Desnick RJ.: Fabry disease: Detection of undiagnosed hemodyalysis patients and identification of a “renal variant” phenotype. Kidney International. Vol. 64. 2003:801-806.
• Brenner BM, Grunfeld JP: Renoprotection by enzyme replacement therapy. Special Commentary. 2004, 13:231-241.
• Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ: Safety and Efficacy of Recombinant Human a~Galactosidase A Replacement Therapy in Fabry’s Disease. The New England Journal of Medicine. Vol. 345. 2001:9-15.
• Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linhorst GE, Desnick RJ, Germain DP. Long-term Safety and Efficacy of Enzyme Replacement Therapy for Fabry Disease. Am. J. Hum. Genet. Vol. 75:2004:65-74.
• Robert J. Desnick PhD, MD, and Roscoe O. Brady MD. Fabry disease in childhood. The Journal of Pediatrics. Volume 144, Issue 5, Supplement 1, May 2004, Pages S20-S26. Symposium on Lysosomal Storage Disorders
• William R. Wilcox MD, PhD. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. The Journal of Pediatrics. Volume 144, Issue 5, Supplement 1, May 2004, Pages S3-S14. Symposium on Lysosomal Storage Disorders