Associated Papers
Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.
Park KS
Children (basel, Switzerland), 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
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.
Tajima Y et al.
Journal of Human Genetics, 2011
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".
Tajima Y et al.
Journal of Human Genetics, 2007
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans MM et al.
Human Mutation, 2004
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