Associated Papers
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 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
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.
Zhou X et al.
Peerj, 2024
Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification.
Nannelli C et al.
British Journal of Haematology, 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
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
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
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
Tong Y et al.
Bmc Medical Genetics, 2020
Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.
Gao J et al.
Human Heredity, 2020
[Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou].
Tang F et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Rapid detection of G6PD mutations by multicolor melting curve analysis.
Xia Z et al.
Molecular Genetics and Metabolism, 2016
A Novel A1088T Mutation in the Glucose-6-Phosphate Dehydrogenase Gene Detected by RT-PCR Combined with DNA Sequencing.
Chen X et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2016
Prevalence and molecular characterization of G6PD deficiency in two Plasmodium vivax endemic areas in Venezuela: predominance of the African A-(202A/376G) variant.
Vizzi E et al.
Malaria Journal, 2016
Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China.
Peng Q et al.
Plos One, 2015
[Molecular epidemiology analysis of glucose-6-phosphate dehydrogenase gene mutations among infertile patients in Shenzhen].
Wu T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
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
Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow.
Maciag M et al.
Acta Biochimica Polonica, 2007
Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia.
Kawamoto F et al.
Journal of Human Genetics, 2006
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
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
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