Associated Papers
Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.
Cheah FC et al.
International Journal of Neonatal Screening, 2025
Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis.
Chien YH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf
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
Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.
Chien YH et al.
The Journal of Pediatrics, 2015
Pompe disease: early diagnosis and early treatment make a difference.
Chien YH et al.
Pediatrics and Neonatology, 2013
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.
Huang HP et al.
Human Molecular Genetics, 2011
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
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