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 diseases (GSDs) comprise a heterogeneous group of inherited metabolic disorders that impede the normal synthesis or degradation of glycogen, resulting in diverse clinical phenotypes.

Ultragenyx is gearing up to take its glycogen storage disease (GSD) treatment to regulators next year after the gene therapy helped patients reduce their intake of cornstarch, which is currently used ...

Lysosomal Storage Disorders are genetic conditions caused by enzyme deficiencies that lead to harmful substance buildup in cells, resulting in progressive organ damage. Common disorders in India ...

Researchers at Children's Hospital of Philadelphia (CHOP) announced encouraging results from the first ever gene therapy trial for Danon disease (DD), a rare, X-linked heart condition caused by a ...