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 ...

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 ...

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 ...

Pompe disease is a rare genetic disorder that disables the heart and skeletal muscles. The inherited disorder can develop at any age, although the often-fatal disorder has faster progression and ...

The treatment which took place at UConn’s John Dempsey Hospital used gene therapy, a technique in which the patients genetic data is altered to fix an issue inside the genes in their cells. This ...

An international research team has uncovered new insights into healthy brain aging. The researchers found that aging leads to ...

Below are diseases that are often screened for in Jewish couples who are planning to have children because of an elevated risk of carrying a recessive mutation. Researchers so far have identified many ...

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Maze Therapeutics, a company translating genetic insights into new precision medicines, today announced that the company will present data from its ...