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Glycogen storage disease type I (GSD-I) consists of a group of autosomal recessive disorders that cause metabolic abnormalities and/or myeloid dysfunction. This Review addresses the etiology of ...
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.
Pompe disease - also known as Glycogen Storage Disease Type II (GSD II) - is a rare but serious metabolic disorder that affects both humans and dogs. It is named after the Dutch pathologist Joannes ...
The recent comprehensive report on Glycogen Storage Disease Type 1a (GSD-1a) offers a thorough evaluation of the disease's pathophysiology, underlining potential targets that could be influential ...
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In liver glycogen storage disease type 0 (OMIM number 240600), which is caused by liver glycogen synthase deficiency, the main clinical finding is intolerance to fasting accompanied by ...
Single Dose of BEAM-301 Restored Clinically Meaningful Endpoints in In Vivo Rodent Disease Models Out to at Least One Year Company Plans to Submit U.S. Investigational New Drug (IND) Application ...
At the Association for Glycogen Storage Disease's 41st Annual Conference, Dr. David Weinstein of UConn School of Medicine and Connecticut Children's presented his groundbreaking, one-year clinical ...
It mostly affects the liver, heart, and muscles. You might hear Pompe disease called by other names such as GAA deficiency or type II glycogen storage disease (GSD).
Ultimately, we were told that Bodhi, along with about 1,150 other people in the world, has a glycogen storage disease. He has the most common subtype, called type 1a or Von Gierke's disease, but ...
Glycogen is the stored form of a simple sugar called glucose. Learn about how glycogen works in your body and why it’s important.