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

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...

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Detalles Bibliográficos
Autores principales: Kim, Min-Sun, Song, Ari, Im, Minji, Huh, June, Kang, I-Seok, Song, Jinyoung, Yang, Aram, Kim, Jinsup, Kwon, Eun-Kyung, Choi, Eu-Jin, Han, Sun-Ju, Park, Hyung-Doo, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Pediatric Society 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584236/
https://www.ncbi.nlm.nih.gov/pubmed/30360039
http://dx.doi.org/10.3345/kjp.2018.06968

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584236/
https://www.ncbi.nlm.nih.gov/pubmed/30360039
http://dx.doi.org/10.3345/kjp.2018.06968

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