Associated Papers
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
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
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
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