Associated Papers
Association between G6PD gene variants and adverse pregnancy outcomes.
Guo D et al.
Bmc Pregnancy and Childbirth, 2026
Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning.
Yang J et al.
Clinical Genetics, 2026
Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.
Yin Y et al.
Human Genomics, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.
Chen ZX et al.
Transfusion Medicine (oxford, England), 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
Screening, genotyping and haematological analysis of glucose-6-phosphate dehydrogenase deficiency in the blood donors of Wuxi City, China.
Jin J et al.
Vox Sanguinis, 2024
Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.
Li H et al.
Journal of Medical Biochemistry, 2024
Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience.
Zhang Z et al.
Annals of Hematology, 2024
Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.
Zhou X et al.
Peerj, 2024
Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.
Zhou J et al.
Frontiers in Genetics, 2024
Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.
Tan M et al.
Plos One, 2024
Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China.
Li Z et al.
Human Genomics, 2023
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.
Geck RC et al.
American Journal of Human Genetics, 2023
Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.
Chen S et al.
Human Heredity, 2023
Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.
Xuan-Rong Koh D et al.
Plos One, 2023
Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis.
Pfeffer DA et al.
Pathogens (basel, Switzerland), 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].
Li H et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022
Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam.
Ngo TT et al.
Anemia, 2022
Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.
Xia Z et al.
Frontiers in Genetics, 2022
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.
Shen S et al.
Frontiers in Genetics, 2022
UGT1A1*6 mutation associated with the occurrence and severity in infants with prolonged jaundice.
Yang Z et al.
Frontiers in Pediatrics, 2022
Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.
Wei H et al.
Frontiers in Genetics, 2022
Molecular genotyping of G6PD mutations for neonates in Ningbo area.
Pan J et al.
Journal of Clinical Laboratory Analysis, 2021
Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.
Wang X et al.
Frontiers in Genetics, 2021
Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution.
He Y et al.
Scientific Reports, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
Liu Z et al.
Human Mutation, 2020
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.
Gao J et al.
Human Heredity, 2020
Correcting glucose-6-phosphate dehydrogenase deficiency with a small-molecule activator.
Hwang S et al.
Nature Communications, 2018
High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.
Islam MT et al.
Bmc Genetics, 2018
Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian.
Chen Y et al.
Medicine, 2018
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.
Fu C et al.
Scientific Reports, 2018
[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province].
Lin F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China.
Yang H et al.
International Journal of Laboratory Hematology, 2015
Changes in red blood cell membrane structure in G6PD deficiency: an atomic force microscopy study.
Tang J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.
Peng Q et al.
Plos One, 2015
Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay.
Pan M et al.
Molecular Biology Reports, 2013
Two new variants of G6PD deficiencies in Singapore.
Hamada M et al.
Nepal Medical College Journal : Nmcj, 2010
A novel G473A mutation in the glucose-6-phosphate dehydrogenase gene.
Chen X et al.
Pediatric Blood & Cancer, 2010
Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis.
Yan JB et al.
The Journal of Molecular Diagnostics : Jmd, 2010
[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Rapid detection of glucose-6-phosphate dehydrogenase gene mutations by denaturing high-performance liquid chromatography.
Tseng CP et al.
Clinical Biochemistry, 2005
Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.
Ainoon O et al.
The Malaysian Journal of Pathology, 2004
[The preliminary study on the gene mutations of sixty patients with G6PD deficiency in Yunnan province].
Yang Z et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2000
Multiplex primer extension reaction screening and oxidative challenge of glucose-6-phosphate dehydrogenase mutants in hemizygous and heterozygous subjects.
Ko CH et al.
Blood Cells, Molecules & Diseases, 0
G6PD NanKang (517 T-->C; 173 Phe-->Leu): a new Chinese G6PD variant associated with neonatal jaundice.
Chen HL et al.
Human Heredity, 0