1.0Institut de Myologiehttps://www.institut-myologie.org/en/adminhttps://www.institut-myologie.org/en/author/admin/Diagnosing patients with Pompe disease - Institut de Myologierich600338<blockquote class="wp-embedded-content" data-secret="BGX42S5VtO"><a href="https://www.institut-myologie.org/en/2014/08/26/diagnosing-patients-with-pompe-disease/">Diagnosing patients with Pompe disease</a></blockquote><iframe sandbox="allow-scripts" security="restricted" src="https://www.institut-myologie.org/en/2014/08/26/diagnosing-patients-with-pompe-disease/embed/#?secret=BGX42S5VtO" width="600" height="338" title="“Diagnosing patients with Pompe disease” — Institut de Myologie" data-secret="BGX42S5VtO" frameborder="0" marginwidth="0" marginheight="0" scrolling="no" class="wp-embedded-content"></iframe><script type="text/javascript">
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Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of signs and symptoms with other neuromuscular diseases make diagnosis challenging. In the past, the diagnosis of Pompe disease was based on enzyme … [Read more]https://www.institut-myologie.org/wp-content/uploads/archive/en/molgenmet_logo.jpg