Associated Papers
Genetic basis and spatial distribution of glucose-6-phosphate dehydrogenase deficiency in ecuadorian ethnic groups: a malaria perspective.
Atarihuana S et al.
Malaria Journal, 2023
37752491 (PubMed )
Supplement: 12936_2023_4716_MOESM1_ESM.xlsx › Table_S2
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants
Stabilization of glucose-6-phosphate dehydrogenase oligomers enhances catalytic activity and stability of clinical variants.
Garcia AA et al.
The Journal of Biological Chemistry, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles
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
G6PD deficiency and Harilaou variant in a newborn: Intrauterine haemolysis and meconium aspiration syndrome.
Athanasiadou KI et al.
Journal of Mother and Child, 2021
Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells.
Makarona K et al.
Blood, 2014
Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.
Patrinos GP et al.
Human Mutation, 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
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