Author:
Shi Zhen-Dan,Motabar Omid,Goldin Ehud,Liu Ke,Southall Noel,Sidransky Ellen,Austin Christopher P.,Griffiths Gary L.,Zheng Wei
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry,Analytical Chemistry
Reference18 articles.
1. Desnick R, Ioannou Y, Eng C (2001) Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Baudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, vol 1, 8th edn. McGraw-Hill, New York, pp 3733–3774
2. Ishii S et al (2007) Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J 406(2):285–295
3. Ishii S, Suzuki Y, Fan JQ (2000) Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease. Arch Biochem Biophys 377(2):228–233
4. Ishii S et al (1993) Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun 197(3):1585–1589
5. Brady RO (2006) Enzyme replacement for lysosomal diseases. Annu Rev Med 57:283–296
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献