Associated Papers
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
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
Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.
Ebrahimi M et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2017
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