Author:
Doi Kent,Noiri Eisei,Ishizu Tomoko,Negishi Kousuke,Suzuki Yoshifumi,Hamasaki Yoshifumi,Honda Kenjiro,Fujita Toshiro,Tsukimura Takahiro,Togawa Tadayasu,Saito Seiji,Sakuraba Hitoshi
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference31 articles.
1. Brady, R.O., Gal, A.E., Bradley, R.M., Martensson, E., Warshaw, A.L., Laster, L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N. Engl. J. Med. 276, 1163–1167 (1967).
2. Desnick, R.J., Ioannou, Y., Eng, C.M. in The Metabolic and Molecular Bases of Inherited Disease. Scriver C.R., Beaudet A.L., Sly W.S. & Valle D. (eds). 3373–3374 (McGraw-Hill: New York, 2001).
3. Branton, M.H., Schiffmann, R., Sabnis, S.G., Murray, G.J., Quirk, J.M., Altarescu, G. et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine 81, 122–138 (2002).
4. Nakao, S., Takenaka, T., Maeda, M., Kodama, C., Tanaka, A., Tahara, M. et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N. Engl. J. Med. 333, 288–293 (1995).
5. Rosenthal, D., Lien, Y.H., Lager, D., Lai, L.W., Shang, S., Leung, N. et al. A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease. Am. J. Kidney Dis. 44, e85–e89 (2004).
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