Autor: Na Cao
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Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China
BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent inherited metabolic disorder, affecting approximately 500 million individuals worldwide. Current neonatal screening protocols necessitate continuous refinement of cut-off valu…