Associated Papers
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
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
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
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
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