Cancer is considered the most important clinical, social and economic issue regarding
cause‑specific disability‑adjusted life years among all human pathologies. Exogenous …

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

Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel
disease in glycogen storage disease type Ib (GSD-Ib). Our discovery that accumulating 1, 5 …

Neutropenia represents an important problem in patients with genetic deficiency in either the
glucose-6-phosphate transporter of the endoplasmic reticulum (G6PT/SLC37A4) or G6PC3 …

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 …

Background Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen
metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the …

In patients with glycogen storage disease type Ib (GSD Ib), quality of life is severely
hampered by neutropenia and neutropenia‐associated symptoms. SGLT2 inhibitors are a …

GSD Ib is a complex disorder of glucose metabolism causing severe chronic neutropenia. G-
CSF is effective to raise blood neutrophil counts and reduce fevers and infections in most …

Telomeres, protective DNA-protein complexes at the end of eukaryotic linear chromosomes,
play pivotal roles in the maintenance of genomic stability during cell division. When …