High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

doi:10.1002/jimd.12793

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Article

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Journal of inherited metabolic disease - 1 Jan 2025

Jiao Kexin, Zhu Bochen, Chang Xueli, Guo Junhong, Fu Jun, Song Xueqin, Yu Xuen, Zhang Xiaoge, Dong Jihong, Yan Wang, Luan Xinghua, Wang Zhiqiang, Han Hong, Du Lijun, Yu Liqiang, Zhang Yali, Zhang Jingjing, Chen Yan, Hu Jing, Zhao Zhe, Kang Juan, Tan Song, Wang Zhiyun, Mao Shanshan, Qian Fangyuan, Luo Ronghua, Liu Changxia, Huang Zhengyu, Li Gang, Li Xia, Luo Lijun, Li Dong, Zhou Yuanlin, Hu Xiafei, Yu Xuefan, Shi Yongguang, Jiang Jianming, Zhang Jialong, Cheng Nachuan, Wang Ningning, Xia Xingyu, Yue Dongyue, Gao Mingshi, Xi Jianying, Luo Sushan, Lu Jiahong, Zhao Chongbo, Ke Qing, Ma Mingming, Zhu Wenhua

Abstract excerpt

Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population. A total of 726 patients were included,...

Topics

Humans
Glycogen Storage Disease Type II
Male
Female
China
Adolescent
alpha-Glucosidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adult

Child

Young Adult

Child, Preschool

Middle Aged

Infant

Mutation

Age of Onset

Dried Blood Spot Testing

Tandem Mass Spectrometry

Genetic Testing

Source

Open in PubMed

Identifiers

PMID: 39227307
DOI: 10.1002/jimd.12793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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