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 ...

When a group of cyclists set off to climb Mount Etna on the 3rd stage of Giro d'Italia today, they will have definitely eaten large amounts of carbohydrates in the form of pasta, rice or potatoes ...

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 disease IV (GSD IV or Andersen disease) accounts for only 3/1000 of all GSD's and 1 in 7 60 000 to 9 60 000 live births. 1 It is an autosomal recessive metabolic disorder caused by ...

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 disorders encompass a range of inherited conditions characterised by defective synthesis or degradation of glycogen, with Pompe disease (glycogen storage disease type II) being the ...

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 ...

A medical mystery that could have implications for Nunavik residents has been solved by researchers, 15 years after five Inuit children were found to have enlarged livers. In a study published last ...

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 ...