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
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Hsueh CY et al.
Orphanet Journal of Rare Diseases, 2021
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK et al.
Molecular Genetics and Metabolism Reports, 2019
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
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
Yang CF et al.
The Journal of Pediatrics, 2016
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Wan L et al.
Journal of Neurology, 2008
Select a paper to view details