Bolezn' Pompe - novyy vzglyad na problemu
- Authors: Basargina E.N1, Arkhipova E.N1, Ermolenko V.S1
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- Issue: No 1 (2014)
- Pages: 29-32
- Section: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/286529
- ID: 286529
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Abstract
The present review is dedicated to the prevalence and treatment strategies for severe hereditary disease characterized by deficiency of the lysosomal acid alpha-glucosidase - Pompe disease. The forms of the disease, diagnostic tactics and approach to differential diagnosis are presented. Method of enzyme-replacement therapy aimed directly at correcting the primary defect of metabolism is discussed as the only specific treatment of this disease. The authors draw attention to the need for the earliest possible start of enzyme replacement therapy for best results.
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About the authors
E. N Basargina
Email: basargina@nczd.ru
E. N Arkhipova
Email: arkhipovae@nczd.ru
V. S Ermolenko
References
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