A case of Pompe disease in infant

A case of Pompe disease in infant in Orenburg is presented in this article. Clinical picture of the infantile form of the disease is described. Enzyme replacement therapy (ERT) with alglucosidase alfa is presented (alglucosidase alfa is not registered in Russia, was administered due tolife-threateni...

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Bibliographic Details
Main Authors: E. F. Sudorgina, S. B. Choloyan, M. V. Sheenkova, L. P. Kolesnikova
Format: Article
Language:Russian
Published: ABV-press 2015-02-01
Series:Nervno-Myšečnye Bolezni
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/65