Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of
glycogen debranching enzyme activity, causing inability to fully mobilize glycogen stores …

Abstract According to the American Heart Association, cardiomyopathies are classified as
primary (solely or predominantly confined to heart muscle), secondary (those showing …

Background and purpose Rhabdomyolysis is a medical emergency characterized by acute
skeletal muscle breakdown with a sudden rise and subsequent fall of serum creatine kinase …

Glycogen storage diseases (GSDs) are known as complex disorders with overlapping
manifestations. These features also preclude a specific clinical diagnosis, requiring more …

We present a study of five children from three unrelated Irish Traveller families presenting
with primary ciliary dyskinesia (PCD). As previously characterized disorders in the Irish …

Glycogen is a macromolecule composed of up to 60,000 glucose molecules joined into
straight chains by α-1-4 linkages and with branching points formed by α-1, 6-linkages at …

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly
resident on the island of Ireland with smaller populations in Europe and the USA. High …

Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase
(PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually …

Glycogen storage disorders occur due to enzyme deficiencies in the glycogenolysis and
gluconeogenesis pathway, encoded by 26 genes. GSD's present with overlapping …

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder that is
characterized by the excessive accumulation of abnormal glycogen in the liver and muscles …