Acta clinica Croatica, Vol. 52. No. 3., 2013.
Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease
Vanja Bašić Kes
Vesna Vargek Solter
Full text: english pdf 311 Kb
APA 6th Edition
Bašić Kes, V., Cesarik, M., Zavoreo, I., Soldo-Butković, S., Kes, P., Bašić-Jukić, N., ... Demarin, V. (2013). Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease. Acta clinica Croatica, 52. (3.), 395-405. Retrieved from https://hrcak.srce.hr/116901
MLA 8th Edition
Bašić Kes, Vanja, et al. "Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease." Acta clinica Croatica, vol. 52., no. 3., 2013, pp. 395-405. https://hrcak.srce.hr/116901. Accessed 30 May 2023.
Chicago 17th Edition
Bašić Kes, Vanja, Marijan Cesarik, Iris Zavoreo, Silva Soldo-Butković, Petar Kes, Nikolina Bašić-Jukić, Sanjin Rački, et al. "Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease." Acta clinica Croatica 52., no. 3. (2013): 395-405. https://hrcak.srce.hr/116901
Bašić Kes, V., et al. (2013). 'Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease', Acta clinica Croatica, 52.(3.), pp. 395-405. Available at: https://hrcak.srce.hr/116901 (Accessed 30 May 2023)
Bašić Kes V, Cesarik M, Zavoreo I, Soldo-Butković S, Kes P, Bašić-Jukić N, et al. Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease. Acta clinica Croatica [Internet]. 2013 [cited 2023 May 30];52.(3.):395-405. Available from: https://hrcak.srce.hr/116901
V. Bašić Kes, et al., "Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease", Acta clinica Croatica, vol.52., no. 3., pp. 395-405, 2013. [Online]. Available: https://hrcak.srce.hr/116901. [Accessed: 30 May 2023]
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the α-galactosidase A (α-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the
general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10-15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.
Anderson-Fabry disease, diagnosis, treatment
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