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 ...
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 ...
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 ...
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 ...
NOVATO, Calif., July 26, 2018 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (NASDAQ:RARE), a biopharmaceutical company focused on the development of novel products for rare and ultra-rare ...
Glycogen storage disorders are inborn errors of metabolism that typically affect the cellular architecture and function of the liver or kidney. However, some of these diseases manifest in skeletal or ...
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 ...
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 ...
A 14-mo-old South American coati (Nasua nasua) was submitted for necropsy to the University of Kentucky Veterinary Diagnostic Laboratory. The coati had a history of progressive neurologic signs ...
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