Article
High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population.
Molecular genetics and metabolism - 1 Aug 2026
Jiao Kexin, Wang Yang, Zhou Jueru, Zhu Bochen, Wang Yiqi, Niu Qi, Mao Shanshan, Chen Yan, Zhang Jialong, Ma Xini, Chen Xinyu, Zhao Chongbo, Yang Shiwei, Tang Xiaohua, Zhu Wenhua
Abstract excerpt
Pseudodeficiency alleles pose a significant challenge to Pompe disease (PD) newborn and high-risk screening by causing false-positive enzyme reductions without clinical manifestations. The clinical significance of the GAA c.[752C > T;761C > T] haplotype, frequently identified in East Asian screening programs, remains uncertain. We conducted a retrospective review of the Chinese PD high-risk screening program,...
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