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Article

Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.

European journal of medical genetics - 1 Dec 2020

Su Xueying, Sheng Huiying, Huang Yonglan, Li Xiuzhen, Zhang Wen, Zhao Xiaoyuan, Li Cuiling, Liu Li

Abstract excerpt

Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Early and precise diagnosis can be highly important for the treatment, genetic counselling and prenatal diagnosis of this disease in potential candidates. Considering that Pompe disease studies have not been frequently conduced in China, to better understand the clinical course and molecular...

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PMID: 32711049
DOI: 10.1016/j.ejmg.2020.103997

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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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