Associated Papers
Retrospective analysis of prenatal ultrasound of children with Pompe disease.
Li YL et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
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
Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.
Su X et al.
European Journal of Medical Genetics, 2020
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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