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- W212018840 abstract "To present the strategy of identifying the molecular variants of G6PD detected in neonatal screening (NS).We present a series of incident cases of newborns positive for G6PD deficiency detected in NS. From nuclear DNA with the methodology of real-time PCR we sought molecular G6PD variants: G202A, A376G, T968C and C563T.Of a total of 21,619 neonates, 41 cases were reactive in NS for G6PD (189.6/100,000 RN screened rate), 34 cases confirmed the molecular variant of G6PD (157.3/100,000 RN screened rate). The most frequent allele combination G202A/A376G (G6PD ratio and median activity, 0.460 and 1.72 ± 0.35 U/g Hb, respectively), followed by G202A (0.170 and 1.74 ± 0.27 U/g Hb) and A376G/T968C (ratio 0.150 and 1.10 ± 0.44 U/g Hb). The T968C allelic variant showed lower enzyme activity than the rest (1.1 ± 0.4; p = 0.02). Two women were detected with G6PD deficiency with G202A/A376G and G202A variant.African alleles were prevalently detected in neonatal screening. This strategy allows the identification of molecular variants involved in 80% of cases." @default.
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- W212018840 date "2015-03-06" @default.
- W212018840 modified "2023-10-03" @default.
- W212018840 title "[Molecular identification of glucose-6-phosphate dehydrogenase (G6PD) detected in neonatal screening]." @default.
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