Glycogen storage diseases (GSDs) constitute a group of inherited metabolic disorders that impair normal glycogen synthesis or degradation, resulting in the accumulation of structurally abnormal ...
McArdle disease, also known as glycogen storage disease type V, is an inherited metabolic disorder marked by a deficiency of myophosphorylase, the enzyme essential for the breakdown of glycogen in ...
Glycogen storage disease (GSD) refers to a group of rare genetic conditions that affect how the body stores and breaks down glycogen. The most common type is type I, also called von Gierke disease.
Glycogen storage disorders are metabolic conditions that manifest in the first years of life. This inability to process and store glucose can be difficult to diagnose. Now, researchers who have ...
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 ...
A potential treatment strategy for an often-fatal inherited glycogen storage disease has been identified by researchers. Patients with the disorder lack the enzyme that enables their livers to convert ...
Researchers from Maze Therapeutics Inc. presented the discovery and preclinical characterization of a novel selective small-molecule inhibitor of glycogen synthase 1 (GYS1), MZ-101, as a potential ...
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