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 disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in
glucose-6-phosphatase-α (G6Pase-α) and GSD-Ib, which is characterized by an absence of …

Benign liver tumours are a heterogeneous group of lesions with different cellular origins, as
summarized by an international panel of experts sponsored by the World Congress of …

Disclaimer: This guideline is designed primarily as an educational resource for clinicians to
help them provide quality medical services. Adherence to this guideline is completely …

Abstract Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease
type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib …

Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its
relative rarity implies that no metabolic centre has experience of large series of patients and …

Purpose This paper aims to report collective information on safety and efficacy of
empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD …

Background Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate
metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and …

Background Besides major clinical/biochemical features, neutropenia and inflammatory
bowel disease (IBD) constitute common complications of Glycogen storage disease type Ib …

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