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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Shuyuan Xue

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Open access Aug 2026

Development and clinical application of CAPAH: a long-read sequencing approach for accurate second-tier screening of phenylketonuria in newborns

Phenylketonuria (PKU) is a common inherited metabolic disorder in newborns. Early diagnosis and timely intervention are essential to prevent neurodevelopmental impairment. Traditional newborn screening primarily relies on measuring blood phenylalanine (Phe) levels, which can lead to both false-positive and fals...

Shu-Yuan Xue, Ziyi Feng, Jingying Zhu et al. · 0 citations

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