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 ...

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 ...

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.

Dr Sudheendra Rao N R from the Organization for Rare Diseases India reveals that approximately 70 million are affected by ...

For Zevra Therapeutics and its rare neurodegenerative disease med arimoclomol, the second time’s the charm. Friday, the FDA approved Zevra’s arimoclomol capsules to treat the rare lysosomal storage ...

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is ...