Associated Papers
First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia.
Alotaibi W et al.
Cureus, 2025
A live bacteria enzyme assay for identification of human disease mutations and drug screening.
Choe D et al.
Nature Biomedical Engineering, 2025
Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.
Busehail M et al.
Cureus, 2025
Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.
Xi BX et al.
Current Medical Science, 2024
Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
Huang YT et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2024
The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.
Wang Y et al.
Bmc Medical Genomics, 2023
Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: Correction of misdiagnosis and consideration of the cause of misdiagnosis.
Zhu D et al.
British Journal of Haematology, 2023
Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.
Sampagar A et al.
International Journal of Hematology, 2022
Hereditary Non-Spherocytic Hemolytic Anemia (HNSHA): Four Children with Rare Hereditary Red Cell Enzymopathies.
Sivasankaran M et al.
Indian Pediatrics, 2021
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene.
See WQ et al.
Journal of Pediatric Hematology/oncology, 2020
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar PS et al.
International Journal of Hematology, 2019
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
Kedar PS et al.
Indian Journal of Pediatrics, 2019
Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
Kedar PS et al.
Journal of Clinical Pathology, 2019
Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.
Fermo E et al.
Frontiers in Physiology, 2019
Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation.
Zaidi AU et al.
Pediatric Hematology and Oncology, 2017
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.
Jamwal M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.
Manco L et al.
Blood Cells, Molecules & Diseases, 2016
Effects of inherited mutations on catalytic activity and structural stability of human glucose-6-phosphate isomerase expressed in Escherichia coli.
Lin HY et al.
Biochimica Et Biophysica Acta, 2009
Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation.
Repiso A et al.
Biochimica Et Biophysica Acta, 2005
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
Kugler W et al.
Human Genetics, 1998
[Hereditary hemolytic erythocyte enzymopathies].
Alekseev GA
Klinicheskaia Meditsina, 1980