Glucose Phosphate Isomerase Deficiency Latest Advances

Find the Latest Research About Glucose Phosphate Isomerase Deficiency

Last Updated: 06/30/2026

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Found 198 publications

A Complex Case of Glucose-Phosphate Isomerase Deficiency With an Indeterminate Adrenal Incidentaloma.

A Complex Case of Glucose-Phosphate Isomerase Deficiency With an Indeterminate Adrenal Incidentaloma.

Journal: Cureus

Published: March 02, 2026

Optimized AAV vector enables potent therapeutic rescue of inherited glycosylphosphatidylinositol deficiency in mice.

Optimized AAV vector enables potent therapeutic rescue of inherited glycosylphosphatidylinositol deficiency in mice.

Journal: Molecular therapy. Advances

Published: January 05, 2026

Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies.

Preferential use of alkyl-acyl phosphatidylinositol for GPI biosynthesis and diagnostic potential of lipidomics for inherited GPI deficiencies.

Journal: The Journal of biological chemistry

Published: December 04, 2025

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.

Journal: Cureus

Published: October 17, 2025

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.

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.

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

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Journal: Molecular genetics & genomic medicine

Published: May 14, 2025

ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.

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.

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.

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.

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.

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

Showing 1-12 of 198

Last Updated: 06/30/2026