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) constitute a group of inherited metabolic disorders that impair normal glycogen synthesis or degradation, resulting in the accumulation of structurally abnormal ...

In a global first, UConn Health, in collaboration with Connecticut Children's, has dosed a patient in a groundbreaking clinical trial testing gene editing technology to treat glycogen storage disease ...

Introduction: Glycogen storage disease Type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme, encoded by the AGL gene. Two clinical types of the ...

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 ...

Gerty Cori was a biochemist whose work fundamentally reformed our understanding of how cellular energy is stored and released in the body. Despite facing systemic barriers as a Jewish woman in ...

More Than 40 Adult Sickle Cell Disease Patients Now Enrolled in BEACON Trial of BEAM-101; Beam Expects to Dose 30 Patients and Present Updated Data by Mid-2025 Initial Data from Phase 1/2 Trial of ...