Glycogen storage disorders are inborn errors of metabolism that typically affect the cellular architecture and function of the liver or kidney. However, some of these diseases manifest in skeletal or ...
Glycogen storage disease type III (GSD III) is a rare genetic disorder resulting from mutations in the AGL gene, which encodes the glycogen debranching enzyme (GDE). This enzyme is vital for the ...
McArdle's disease, also known as Glycogen Storage Disease Type V, or GSD5, is a congenital disorder of muscle metabolism. It occurs when the body loses its ability to break down glycogen leading to ...
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