Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) today announced that it has completed the rolling submission of its Biologics License Application (BLA) to the U.S. Food and Drug Administration (FDA), ...
Glycogen storage disease type III (GSD III; MIM #232400) is an autosomal recessive inherited disorder characterized by fasting hypoglycemia, growth retardation, hepatomegaly, progressive myopathy, and ...
Glycogen storage diseases (GSDs) constitute a group of inherited metabolic disorders that impair normal glycogen synthesis or degradation, resulting in the accumulation of structurally abnormal ...
A potential treatment strategy for an often-fatal inherited glycogen storage disease has been identified by researchers. Patients with the disorder lack the enzyme that enables their livers to convert ...
Pompe disease also known as Glycogen Storage Disease / Acid Maltase Deficiency is a rare genetic disease caused by the buildup of a sugar called glycogen in the body’s cells. It is caused by the ...
GLYCOGEN STORAGE DISEASE TYPE III (GSD III) was diagnosed in 4 Inuit children (3 confirmed, 1 suspected case) at our institution over the last decade. This rare autosomal recessive disease, which ...
Glycogen storage disorders are metabolic conditions that manifest in the first years of life. This inability to process and store glucose can be difficult to diagnose. Now, researchers who have ...
Von Gierke disease, also known as Type I glycogen storage disease, occurs due to impaired breakdown of glycogen to glucose. Von Gierke disease is a genetic condition in which the body cannot breakdown ...
SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Maze Therapeutics, a company translating genetic insights into new precision medicines, today announced new data from an exploratory muscle biopsy cohort ...
This is a preview. Log in through your library . Abstract Glycogen, the principal storage compound of assimilatory products in Anacystis nidulans, is synthesized in the light and degraded in the dark.
It has been known in the scientific community since the late 1960s that the ability to perform endurance exercise is strongly influenced by the amount of pre-exercise glycogen (carbohydrate) stored in ...
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