Associated Papers
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 gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Gharesouran J et al.
Metabolic Brain Disease, 2020
Late-onset pompe disease in Iran: A clinical and genetic report.
Nazari F et al.
Muscle & Nerve, 2017
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