Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 205 publications

Integrated Approach for Biochemical and Functional Characterization of Six Clinical Variants of Glucose-6-Phosphate Dehydrogenase.

Integrated Approach for Biochemical and Functional Characterization of Six Clinical Variants of Glucose-6-Phosphate Dehydrogenase.

Journal: International journal of molecular sciences
Published: July 16, 2025

The Wnt/β-catenin signaling pathway mediates renal fibrosis in glycogen storage disease type Ib nephropathy.

The Wnt/β-catenin signaling pathway mediates renal fibrosis in glycogen storage disease type Ib nephropathy.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: April 14, 2025

Plasmodium ovale: Exploring an Atypical Presentation.

Plasmodium ovale: Exploring an Atypical Presentation.

Journal: Cureus
Published: November 26, 2024

Physiological and Transcriptional Responses to Phosphorus Deficiency and Glucose-6-Phosphate Supplementation in Neopyropia yezoensis.

Physiological and Transcriptional Responses to Phosphorus Deficiency and Glucose-6-Phosphate Supplementation in Neopyropia yezoensis.

Journal: International journal of molecular sciences
Published: October 22, 2024

Evaluation of Three Mutations in Codon 385 of Glucose-6-Phosphate Dehydrogenase via Biochemical and In Silico Analysis.

Evaluation of Three Mutations in Codon 385 of Glucose-6-Phosphate Dehydrogenase via Biochemical and In Silico Analysis.

Journal: International journal of molecular sciences
Published: September 28, 2024

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.

Journal: BMC medical genomics
Published: August 29, 2024

Lactylation-driven ALKBH5 diminishes macrophage NLRP3 inflammasome activation in patients with G6PT deficiency.

Lactylation-driven ALKBH5 diminishes macrophage NLRP3 inflammasome activation in patients with G6PT deficiency.

Journal: The Journal of allergy and clinical immunology
Published: August 28, 2024

Pathogenic G6PD variants: Different clinical pictures arise from different missense mutations in the same codon.

Pathogenic G6PD variants: Different clinical pictures arise from different missense mutations in the same codon.

Journal: British journal of haematology
Published: July 04, 2024

miR-141/200c contributes to ethanol-mediated hepatic glycogen metabolism.

miR-141/200c contributes to ethanol-mediated hepatic glycogen metabolism.

Journal: Molecular metabolism
Published: April 04, 2024

Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib.

Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib.

Journal: Molecular metabolism
Published: October 27, 2023

Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.

Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.

Journal: BioMedicine
Published: August 21, 2023

mTOR-dependent loss of PON1 secretion and antiphospholipid autoantibody production underlie autoimmunity-mediated cirrhosis in transaldolase deficiency.

mTOR-dependent loss of PON1 secretion and antiphospholipid autoantibody production underlie autoimmunity-mediated cirrhosis in transaldolase deficiency.

Journal: Journal of autoimmunity
Published: July 13, 2023
Showing 1-12 of 205

Last Updated: 10/31/2025