Случай болезни Фабри у взрослого глазами кардиолога и генетика

09.08.2013

Литература

1. Ben-Ami R., Puglisi J., Haider T., Mehta D. The Mount Sinai Hospital clinicalpathological conference: a 45-year-old man with Pompe's disease and dilated cardiomyopathy. Mt Sinai J Med 2001; 68(3): 205-212.

2. Brenner B., GruunfeldJ.-P. Renoprotection by enzyme replacement therapy. Curr Opin Nephrol Hypertens 2004; 13: 231-241.

3. Frustaci A., Chimenti C., Ricci R. et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactoseinfusion therapy. N Engl J Med 2001; 345(1): 25-32.

4. Eng C.M., Germain D.P., Banikazemi M. et al. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8 (9): 539-548.

5. Eng C.M., Guffon N., Wilcox W. et al. Safety and efficacy of recombinant human A-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001; 345(1): 9-16.

6. Sims K., Politei J., Banikazemi M. et al. Stroke in Fabry disease frequently occur before diagnosis and in the absence of other clinical events. Stroke 2009; 40: 2-7.

7. Wang R.Y., Lelis A., Mirocha J. et al. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 2007: 9(1): 34-45.







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