Glycogen storage diseases (GSDs) comprise a family of inherited metabolic disorders characterised by defects in enzymes or transporters that regulate glycogen synthesis and breakdown. Clinical ...
Glycogen storage disease type III (GSD III; McKusick, 232,400) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (amylo-1,6-glucosidase, AGL). AGL contains two ...
McArdle's disease, also known as Glycogen Storage Disease Type V, or GSD5, is a congenital disorder of muscle metabolism. It occurs when the body loses its ability to break down glycogen leading to ...
The treatment which took place at UConn’s John Dempsey Hospital used gene therapy, a technique in which the patients genetic data is altered to fix an issue inside the genes in their cells. This ...
Ultragenyx Pharmaceutical Inc. anticipates a meeting later this year with the U.S. FDA to discuss a BLA filing for gene therapy DTX-401 as the first potential medical treatment for glycogen storage ...
Using novel imaging methods for studying brain metabolism, researchers have identified the reservoir for a necessary sugar in the brain. Glycogen serves as a storage depot for the sugar glucose. Using ...
Scientists at the University of Kentucky and colleagues used imaging techniques for studying brain metabolism to identify the reservoir for a necessary sugar in the brain. The team discovered that ...
The Born Korea said on the 27th that it developed three types of cookies commercialized for international glycogen storage disease patients. According to The Born Korea, the three types of cookies it ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results