Associated Papers
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
Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.
Holme S et al.
Journal of Medical Case Reports, 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
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ021
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
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
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
Kugler W et al.
Human Genetics, 1998
Expression and enzymatic characterization of human glucose phosphate isomerase (GPI) variants accounting for GPI deficiency.
Kanno H et al.
Blood Cells, Molecules & Diseases, 1998
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia.
Kanno H et al.
Blood, 1996
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