Author:
Michelakakis H,Skardoutsou A,Mathioudakis J,Moraitou M,Dimitriou E,Voudris C,Karpathios Th
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference17 articles.
1. Beutler, E., and Grabowski, G. A.2001Gaucher disease. InThe Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Valle, D., and Sly, W. S., Eds.; Childs, B., Kinzler, K. W., and Vogelstein, V., Assoc. Eds.), pp. 3635–3668. McGraw-Hill, New York.
2. Hematologically important mutations: Gaucher disease;Beutler;Blood Cells Mol. Dis.,1998
3. Hydrocelphalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings. A new syndrome associated with β-glucocerebrosidase deficiency and a mosaic population of storage cells;Uyama;Acta Neurol. Scand.,1992
4. 1342 C mutation in Gaucher's disease;Beutler;Lancet,1995
5. Gaucher's disease variant characterized by progressive calcification of heart valves and unique phenotype;Abrahamov;Lancet,1995
Cited by
27 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