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Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.

Genetic testing and molecular biomarkers - 1 Jun 2017

Chen Xi, Liu Tingliang, Huang Meirong, Wu Jinjin, Zhu Junxue, Guo Ying, Xu Xinyi, Li Fen, Wang Jian, Fu Lijun

Abstract excerpt

AIMS: We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients. MATERIALS AND METHODS: Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing. RESULTS: The median age at...

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Identifiers

PMID: 28394184
DOI: 10.1089/gtmb.2016.0424

Genes

GAA

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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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