Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited
metabolic disorders of glycogen metabolism caused by deficiency of enzymes or …

Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the
deficiency of individual enzymes involved in the synthesis, transport, and degradation of …

Common data models solve many challenges of standardizing electronic health record
(EHR) data but are unable to semantically integrate all of the resources needed for deep …

Abstract Background Glycogen storage diseases (GSDs) with liver involvement are
classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme …

The fragile X-related disorders are an important group of hereditary disorders that are
caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by …

Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen
metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a …

Context Growth hormone insensitivity (GHI) in children is characterized by short stature,
functional insulin-like growth factor (IGF)-I deficiency, and normal or elevated serum growth …

Hepatic glycogen storage diseases constitute a group of disorders due to defects in the
enzymes and transporters involved in glycogen breakdown and synthesis in the liver …

Glycogen storage disease type IX (GSD-IX) constitutes nearly a quarter of all GSDs. This
ketotic form of GSD is caused by mutations in phosphorylase kinase (PhK), which is …