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 ...
Scientists from the Centenary Institute and the University of Sydney have made a landmark discovery that could lead to safer and more effective gene therapies for a range of serious genetic disorders ...
Liver glycogen storage disease type IX (GSD IX) accounts for 25% for all GSD cases, with a prevalence of 1 out of 100,000 patients. GSD IX is caused by deficiency in phosphorylase kinase (PhK), which ...
At Week 96 participants experienced even greater reductions in daily cornstarch intake while maintaining low levels of hypoglycemia, improved levels of euglycemia and improved fasting tolerance Phase ...