Associated Papers
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Hsueh CY et al.
Orphanet Journal of Rare Diseases, 2021
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
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
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.
Chien YH et al.
Molecular Genetics and Metabolism Reports, 2017
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
A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
Yang CF et al.
American Journal of Medical Genetics. Part A, 2014
Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.
Lee DH et al.
Jimd Reports, 2014
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
Early pathologic changes and responses to treatment in patients with later-onset Pompe disease.
Chien YH et al.
Pediatric Neurology, 2012
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P et al.
Molecular Genetics and Metabolism, 2010
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
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
Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.
Chien YH et al.
Pediatric Research, 2006