Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

• Main Authors: Min-Sun Kim (Author), Ari Song (Author), Minji Im (Author), June Huh (Author), I-Seok Kang (Author), Jinyoung Song (Author), Aram Yang (Author), Jinsup Kim (Author), Eun-Kyung Kwon (Author), Eu-Jin Choi (Author), Sun-Ju Han (Author), Hyung-Doo Park (Author), Sung Yoon Cho (Author), Dong-Kyu Jin (Author)
• Format: Book
• Published: Korean Pediatric Society, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Purpose Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients w...