Associated Papers
First Reported Case of Glucose-6-Phosphate Isomerase Deficiency in a Saudi Child With Hemolytic Anemia.
Alotaibi W 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
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
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
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
A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency.
Burger NCM et al.
Journal of Pediatric Hematology/oncology, 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
A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India.
Sonaye R et al.
Cureus, 2018
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
Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene.
Warang P et al.
International Journal of Hematology, 2012
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
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
Kugler W et al.
Human Genetics, 1998
Select a paper to view details