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.
Functioning brain cells need a functioning system for picking up the trash and sorting the recycling. But when the cellular ...
Together with colleagues from Stanford University, USA, researchers at the Leibniz Institute on Aging - Fritz Lipmann Institute (FLI) have, for the first time, created a comprehensive cell ...
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 ...
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 Sudheendra Rao N R from the Organization for Rare Diseases India reveals that approximately 70 million are affected by ...
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.