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.

Lysosomes, tiny compartments within cells known as the garbage disposals for molecules that need to be degraded, are critical to cell function and a person's health; disruption of lysosomal protein ...

Lysosomal storage diseases comprise a diverse group of inherited disorders in which deficient lysosomal hydrolases lead to the accumulation of undegraded substrates and subsequent cellular dysfunction ...

A new study has identified mutations in a single gene as the cause of a previously unrecognized spectrum of severe neurological disorders ranging from fatal prenatal conditions to progressive ...

Enzyme replacement therapy (ERT) has transformed the management of several lysosomal storage disorders by supplying patients with functional versions of the deficient hydrolases that accumulate ...

Functioning brain cells need a functioning system for picking up the trash and sorting the recycling. But when lysosomes, the cellular sanitation machines responsible for those tasks, break down or ...

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 ...

This AJMC ® Profiles in Care focuses on payer challenges and strategies involved when managing treatments for lysosomal storage diseases and other rare diseases. Stay ahead of policy, cost, and ...

Functioning brain cells need a functioning system for picking up the trash and sorting the recycling. But when the cellular sanitation machines responsible for those tasks, called lysosomes, break ...

A team of researchers from the Institute of Applied Sciences and Intelligent Systems of the National Research Council of Italy (ISASI-CNR) and the Telethon Institute of Genetics and Medicine (TIGEM) ...