Von Gierke Disease Latest Advances

Find the Latest Research About Von Gierke Disease

Last Updated: 04/28/2026

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Found 1380 publications

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

Journal: BMJ case reports

Published: December 31, 2025

Glycogen storage disease type Ia with a 17-year history of renal involvement: a case report.

Glycogen storage disease type Ia with a 17-year history of renal involvement: a case report.

Journal: Journal of medical case reports

Published: December 18, 2025

Glucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome.

Glucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome.

Journal: BMJ case reports

Published: December 17, 2025

Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.

Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.

Journal: Journal of translational medicine

Published: September 13, 2025

Novel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib.

Novel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib.

Journal: Molecular genetics and metabolism

Published: August 05, 2025

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

Journal: Molecular diagnosis & therapy

Published: May 29, 2025

Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.

Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.

Journal: Journal of inherited metabolic disease

Published: May 27, 2025

Structures of human glucose-6-phosphate transporter reveal reciprocal antiport mechanism driving glucose-6-phosphate and inorganic phosphate exchange.

Structures of human glucose-6-phosphate transporter reveal reciprocal antiport mechanism driving glucose-6-phosphate and inorganic phosphate exchange.

Journal: Nature communications

Published: May 23, 2025

Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.

Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.

Journal: BMC pregnancy and childbirth

Published: May 20, 2025

Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.

Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.

Journal: European journal of pediatrics

Published: April 24, 2025

Structural basis of glucose-6-phosphate transport by human SLC37A2.

Structural basis of glucose-6-phosphate transport by human SLC37A2.

Journal: Nature structural & molecular biology

Published: April 18, 2025

Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia.

Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia.

Journal: JCEM case reports

Published: April 16, 2025

Showing 1-12 of 1,380

Last Updated: 04/28/2026