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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

A comprehensive PAH gene sequencing technology based on the HiFi LRS platform that enables comprehensive detection of the PAH gene, including complex variants and cis–trans configurations, thereby improving the accuracy of second-tier PKU screening in newborns and reducing unnecessary recalls.

Shu-Yuan Xue, Ziyi Feng, Jingying Zhu et al. · 0 citations
Case report Open access Aug 2026

A case report of a patient with chronic granulomatous disease complicated by invasive aspergillosis and disseminated Burkholderia multivorans infection

This case underscores the lethal potential of concurrent Aspergillus and Burkholderia infections in X-linked CGD and highlights the critical importance of early diagnosis, which can be achieved through functional assays such as the DHR test or NBT test, followed by genetic confirmation when available.

Xuan-Wen Weng, Heng Zhang, Pei Liu et al. · 0 citations

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