Associated Papers
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Boueri M et al.
Molecular Genetics and Metabolism, 2026
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.
Yang CF et al.
Journal of Medical Genetics, 2023
Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function.
Liu MC et al.
Frontiers in Pediatrics, 2021
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
Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.
Lai CJ et al.
Journal of Child Neurology, 2016
Pompe disease: early diagnosis and early treatment make a difference.
Chien YH et al.
Pediatrics and Neonatology, 2013
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
Chien YH et al.
The Journal of Pediatrics, 2011
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P et al.
Molecular Genetics and Metabolism, 2010
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