Utsumi K
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Itoh K
Department of Medical Biotechnology, Institute for Medical Resources, Graduate School of Pharmaceutical Sciences, the University of Tokushima, Tokushima, Japan

Hirama A
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Ueda K
1 Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Sakamaki M
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Kaneko T
1 Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Yamazaki M
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Komaba Y
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Katsura KI
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Iino Y
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School, Tokyo, Japan

Katayama Y
Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School , Tokyo, Japan

Correspondence:

Kouichi Utsumi, M.D.
Department: Department of Internal Medicine, Divisions of Neurology, Nephrology, and Rheumatology, Nippon Medical School
Address: 1-1-5, Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan
City: Tokyo
Country: Japan
E-mail: utsumi@nms.ac.jp
Tel: 81-3-3822-2131
Fax: 81-3-3822-4865

1. Scriver C, Beaudet A, Sly W, Valle D. The metabolic and molecular bases of inherited disease: McGraw-Hill New York; 2001.

2. Utsumi K, Kase R, Takata T, et al. Fabry disease in patients receiving maintenance dialysis. Clin Exp Nephrol. 2000;4:49-51.

3. Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003;64:801-7.

4. Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285:2743-9.

5. Eng C, Guffon N, Wilcox WR, et al. International Collaborative Fabry Disease Study Group, Safety and efficacy of recombinant human alpha-galactosidase replacement therapy in Fabry's disease. N Engl J Med .2001;345:9-16.

6. Zon G. Oligonucleotide analogues as potential chemotherapeutic agents. Pharm Res. 1988;5:539-49.

7. Stein CA, Tonkinson JL, Yakubov L. Phosphorothioate oligodeoxynucleotides-anti-sense inhibitors of gene expression? Pharmacol Ther. 1991;52:365-84.

8. Chiang MY, Chan H, Zounes MA, Freier SM, Lima WF, Bennett CF. Antisense oligonucleotides inhibit intercellular adhesion molecule 1 expression by two distinct mechanisms. J Biol Chem. 1991;266:18162-71.

9. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta. 1981;112:247-51.

10. Dolnick BJ. Antisense agents in pharmacology. Biochem Pharmacol. 1990;40:671-5.

11. Helene C, Toulme JJ. Specific regulation of gene expression by antisense, sense and antigene nucleic acids.Biochim Biophys Acta. 1990;1049:99-125.

12. Sakuraba H, Itoh K, Shimmoto M, et al. GM2 gangliosidosisAB variant: clinical and biochemical studies of a Japanese patient. Neurology. 1999;52:372-7.