Associated Papers
High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.
Jiao K et al.
Journal of Inherited Metabolic Disease, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S3
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 2019
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
Chen X et al.
Genetic Testing and Molecular Biomarkers, 2017
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Fu L et al.
Gene, 2014
[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].
Fu LJ et al.
Zhonghua Yi Xue Za Zhi, 2013
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM et al.
Journal of Neurology, 2009
[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
Qiu JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
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