Glucose Phosphate Isomerase Deficiency Latest Advances
Find the Latest Research About Glucose Phosphate Isomerase Deficiency
Last Updated: 04/28/2026
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Found 197 publications
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
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.
Journal: Molecular genetics & genomic medicine
Published: May 14, 2025
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.
Journal: The Journal of biological chemistry
Published: January 19, 2025
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
Promise of gene therapy for congenital neurologic disease due to GPI deficiency.
Journal: Molecular therapy. Methods & clinical development
Published: April 04, 2024
Last Updated: 04/28/2026