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
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
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
Liu HX et al.
Chinese Medical Journal, 2018
Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A.
Hua BL et al.
Chinese Medical Journal, 2010
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