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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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Main Authors: E. F. Sudorgina, S. B. Choloyan, M. V. Sheenkova, L. P. Kolesnikova
格式: Artigo
語言:Russo
出版: ABV-press 2015-02-01
叢編:Nervno-Myšečnye Bolezni
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在線閱讀:https://nmb.abvpress.ru/jour/article/view/65
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