Associated Papers
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
41695778 (PubMed )
Supplement: Table1.xlsx › Sheet1
Retrospective analysis of prenatal ultrasound of children with Pompe disease.
Li YL et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
[GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].
Huang YL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
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