Article

The Respiratory Phenotype of Pompe Disease Rodent Models

2020-01-22

Abstract excerpt

Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA) – a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respiratory insufficiency. Pompe disease rodent models provide a means of assessing respiratory pathology and are important for pre-clinical studies of novel therapi...

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Literature Corpus work: 3e3cc873-3935-5eca-b026-ed079ab70e10
DOI: 10.20944/preprints202001.0256.v1

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