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
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
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
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
Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.
Fermo E et al.
Frontiers in Physiology, 2019
Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Mojzikova R et al.
Blood Cells, Molecules & Diseases, 2018
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
Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).
Beutler E et al.
Blood Cells, Molecules & Diseases, 1997
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