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Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.

Human heredity - 1 Jan 2023

Chen Shiguo, Gao Jian, Wu Qunyan, Li Xi, Lin Sheng, Su Jindi, Zheng Kaifeng, Guo Zhaopeng, Yao Jilong, Duan Shan

Abstract excerpt

OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that results in impaired enzyme activity. The G6PD/6PGD ratio assay was routinely used for G6PD deficiency screening in China, but there is an apparent defect of missed diagnosis in heterozygous females. The study aims to explore the means to improve its accuracy. METHODS: A total of 4,161 Chinese females of...

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PMID: 36315991
DOI: 10.1159/000527806
PMCID: PMC9909718

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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