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Last Updated: 10/31/2025
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Found 194 publications
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
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
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
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Journal: Brain : a journal of neurology
Published: October 06, 2023
Last Updated: 10/31/2025