Storage of glycogen is essential for glucose homeostasis and for energy supply during bursts of activity and sustained muscle work. We describe three siblings with profound muscle and heart glycogen ...
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 ...
Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase γ ...
New review highlights evolving Pompe disease management, from screening to next-generation therapies and monitoring. Read ...
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 ...
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 ...
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 ...
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