Glucose Phosphate Isomerase Deficiency Latest Advances

First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia.

Journal: Cureus

Published: October 17, 2025

Radiation-Enhanced CD24 Membrane Trafficking via GPI Anchoring Mediates Anti-Tumor Immune Evasion.

Journal: Cancer research

Published: June 20, 2025

Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.

Journal: Cureus

Published: June 18, 2025

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Journal: American journal of medical genetics. Part A

Published: May 29, 2025

ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.

Journal: The Journal of biological chemistry

Published: January 19, 2025

The 1st international symposium on GPI and its deficiency: bridging basic research to medical Frontiers in PNH and IGD.

Journal: Glycobiology

Published: November 02, 2024

Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives.

Journal: Acta biochimica et biophysica Sinica

Published: July 31, 2024

Hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation: a first report of two cases.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: July 28, 2024

Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

Journal: Cureus

Published: May 21, 2024

Promise of gene therapy for congenital neurologic disease due to GPI deficiency.

Journal: Molecular therapy. Methods & clinical development

Published: April 04, 2024

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

Journal: Molecular genetics & genomic medicine

Published: January 27, 2024

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.

Journal: Current medical science

Published: December 08, 2023

Glucose Phosphate Isomerase Deficiency Latest Advances

Find the Latest Research About Glucose Phosphate Isomerase Deficiency

First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia.

First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia.

Radiation-Enhanced CD24 Membrane Trafficking via GPI Anchoring Mediates Anti-Tumor Immune Evasion.

Radiation-Enhanced CD24 Membrane Trafficking via GPI Anchoring Mediates Anti-Tumor Immune Evasion.

Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.

Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.

ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.

The 1st international symposium on GPI and its deficiency: bridging basic research to medical Frontiers in PNH and IGD.

The 1st international symposium on GPI and its deficiency: bridging basic research to medical Frontiers in PNH and IGD.

Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives.

Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives.

Hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation: a first report of two cases.

Hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation: a first report of two cases.

Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

Promise of gene therapy for congenital neurologic disease due to GPI deficiency.

Promise of gene therapy for congenital neurologic disease due to GPI deficiency.

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.

Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.