Laboratory studies and Pompe disease: from suspicion to therapy monitoring

Pompe disease (PD) is a rare, progressive, commonly fatal inherited autosomal recessive disease that is difficult to diagnose due to its obvious clinical heterogeneity and low awareness among physicians. Access to the laboratory diagnosis of rare diseases increases every year. In the past several ye...

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Bibliographic Details
Main Authors: K. V. Savost’yanov, S. S. Nikitin, K. E. Karpacheva
Format: Article
Language:Russian
Published: ABV-press 2016-03-01
Series:Нервно-мышечные болезни
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/138
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