Fabry Disease
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/3-540-27660-2_11
Reference38 articles.
1. Abe A, Gregory S, Lee L, Killen PD, Brady RO, Kulkarni A, Shayman JA. Reduction of globotriasylceramide in Fabry disease mice by substrate deprevation. J Clin Invest 2000; 105: 1563–1571
2. Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, Panza JA, Schiffmann R. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001; 32: 1559–1562
3. Asano N, Ishii S, Kizu H, Ikeda H, Ikeda K, Kato A, Martin OR, Fan JQ. In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. Eur J Biochem 2000 267: 4179–4186
4. Ashley GA; Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype. J Hum Genet 2001; 46: 192–196
5. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 2003; 26: 617–627
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