Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.
Tacoli C et al.
Biorxiv : the Preprint Server for Biology, 2025
Potentially pathogenic and pathogenic G6PD variants.
Luzzatto L et al.
American Journal of Human Genetics, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.
Lee HY et al.
Frontiers in Pediatrics, 2022
Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.
Sun B et al.
Frontiers in Genetics, 2022
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil.
Pereira LLMD et al.
Einstein (sao Paulo, Brazil), 2019
Correcting glucose-6-phosphate dehydrogenase deficiency with a small-molecule activator.
Hwang S et al.
Nature Communications, 2018
A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Boonyuen U et al.
International Journal of Biological Macromolecules, 2017
Glucose-6-phosphate dehydrogenase--beyond the realm of red cell biology.
Ho HY et al.
Free Radical Research, 2014
Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PD(Plymouth) and G6PD(Mahidol): Evidence for defective protein folding as the basis of disease.
Huang Y et al.
Molecular Genetics and Metabolism, 2008
G6PD deficiency: the genotype-phenotype association.
Mason PJ et al.
Blood Reviews, 2007
Structural studies of glucose-6-phosphate and NADP+ binding to human glucose-6-phosphate dehydrogenase.
Kotaka M et al.
Acta Crystallographica. Section D, Biological Crystallography, 2005
Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.
Au SW et al.
Structure (london, England : 1993), 2000