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Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

Gene - 1 Feb 2014

Fu Lijun, Qiu Wenjuan, Yu Yongguo, Guo Ying, Zhao Pengjun, Zhang Xu, Liu Chunxiao, Li Fen, Huang Huimin, Huang Meirong, Chen Shubao

Abstract excerpt

Pompe disease is an autosomal recessive disorder and is caused by a deficiency in acid alpha-glucosidase (GAA). A broad range of studies have been performed on Pompe patients from different countries. However, the clinical course and molecular basis of the disease in Mainland China have not been well defined. In the present study, we examined a total of 18 Chinese children with infantile-onset Pompe disease to...

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Identifiers

PMID: 24269976
DOI: 10.1016/j.gene.2013.10.066

Genes

GAA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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