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NTIS 바로가기Journal of the European Academy of Dermatology and Venereology : JEADV, v.17 no.6, 2003년, pp.676 - 679
Bongiorno, MR , Pistone, G , Aricò, M
ABSTRACTFabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with α-...
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Brady, Roscoe O., Tallman, John F., Johnson, William G., Gal, Andrew E., Leahy, William R., Quirk, Jane M., Dekaban, Anatole S.. Replacement Therapy for Inherited Enzyme Deficiency : Use of Purified Ceramidetrihexosidase in Fabry's Disease. The New England journal of medicine, vol.289, no.1, 9-14.
Desnick, R J, Dean, K J, Grabowski, G, Bishop, D F, Sweeley, C C. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.. Proceedings of the National Academy of Sciences of the United States of America, vol.76, no.10, 5326-5330.
Schiffmann, R., Murray, G. J., Treco, D., Daniel, P., Sellos-Moura, M., Myers, M., Quirk, J. M., Zirzow, G. C., Borowski, M., Loveday, K., Anderson, T., Gillespie, F., Oliver, K. L., Jeffries, N. O., Doo, E., Liang, T. J., Kreps, C., Gunter, K., Frei, K., Crutchfield, K., Selden, R. F., Brady, R. O.. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proceedings of the National Academy of Sciences of the United States of America, vol.97, no.1, 365-370.
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