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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

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. T...

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Detalles Bibliográficos
Autores principales:	Chen, Shiguo, Gao, Jian, Wu, Qunyan, Li, Xi, Lin, Sheng, Su, Jindi, Zheng, Kaifeng, Guo, Zhaopeng, Yao, Jilong, Duan, Shan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	S. Karger AG 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909718/ https://www.ncbi.nlm.nih.gov/pubmed/36315991 http://dx.doi.org/10.1159/000527806

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