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
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.
Wang Z et al.
Annals of Hematology, 2025
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets.
Li Z et al.
The Journal of Molecular Diagnostics : Jmd, 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
Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.
Huang Z et al.
Annals of Laboratory Medicine, 2024
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
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
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
Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.
Ren ZM et al.
Hemoglobin, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 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
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
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
Evaluation of the Diagnostic Accuracy of the CareStart™ Glucose-6-Phosphate Dehydrogenase Deficiency Rapid Diagnostic Test among Chinese Newborns.
Yu F et al.
Journal of Tropical Pediatrics, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 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
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 newborn screening of four genetic diseases in Guizhou Province of South China.
Huang S et al.
Gene, 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
Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.
Peng Q et al.
Plos One, 2015
A reverse dot blot assay for the expanded screening of eleven Chinese G6PD mutations.
Lu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
[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
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
A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man.
Ren X et al.
Chinese Medical Journal, 2001
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese.
Ainoon O et al.
Human Mutation, 1999
Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia.
Ainoon O et al.
The Malaysian Journal of Pathology, 1995