On February 9, 2017, Viking Therapeutics, Inc. (VKTX) announced successful interim results from a proof-of-concept study of VK2809 in an in vivo model of glycogen storage disease 1a (GSD 1a). The ...

When we see an individual with abnormal left ventricular hypertrophy and preexcitation, our first thought should not be HCM, it should be a glycogen-storage disease. The Seidmans are coauthors of the ...

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 ...

NOVATO, Calif., May 15, 2020 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (RARE), a biopharmaceutical company focused on the development and commercialization of novel products for rare and ...

Glycogen storage disease type III (GSD III) is a rare genetic disorder resulting from mutations in the AGL gene, which encodes the glycogen debranching enzyme (GDE). This enzyme is vital for the ...

Dr. David Weinstein of the University of Connecticut School of Medicine and Connecticut Children's has presented the results from a one-year clinical trial testing a new gene therapy as a treatment ...

Estimates suggest that glycogen storage diseases (GSD) affect from around one person in 40,000 to less than one person in 1,000,000, making them “ultra-rare” diseases. This results in diluted research ...

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 ...

In medical slang, my son is a zebra. Most of us will someday have conditions that are common — cancer, diabetes, heart disease — diseases with familiar symptoms as recognizable as a horse. But my ...

A schoolgirl with a rare illness has to drink six pints of milk a day just to stay alive. Holly Lindley, nine, suffers from Glycogen Storage Disease and cannot convert food she eats into energy. It ...

The rare and deadly genetic liver disorder, GSD type Ia, affects children from infancy through adulthood, causing dangerously low blood sugar levels and constant dependence on glucose consumption in ...