December 2, 2011 — Lysosomal storage disorders such as Fabry's disease and Pompe's disease are much more common than previously thought, particularly atypical later-onset forms, a new study suggests.

Knowing which lysosomal proteins are enriched in which brain cell types will help better understand contribution to neurological disorders.

Functioning brain cells need a functioning system for picking up the trash and sorting the recycling. But when the cellular ...

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 ...

Researchers have identified a potential treatment for Sandhoff and Tay-Sachs diseases -- two rare, often fatal lysosomal storage disorders that cause progressive damage to nerve cells in the brain and ...

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.

HYOGO, Japan--(BUSINESS WIRE)--JCR Pharmaceuticals Co., Ltd. (TSE: 4552) made significant contributions at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2024, held ...

Dr. James Gibson and his genetics clinic at Dell Children's Medical Center are expecting a first any day now: The first baby with a lysosomal storage disorder to come to the clinic for treatment ...