Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China

BACKGROUND: Pompe disease is a rare, progressive, and life-threatening autosomal recessive disorder. In its late-onset form, the disease is primarily characterised by mild progressive proximal limb and respiratory muscle weakness. Mutations in the acid alpha-glucosidase (GAA) gene cause lysosomal en...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Hui-Hui, Ma, Zhi, Ying, Zi-Xuan, Niu, Feng-Nan, Luo, Mao-Tao, Wang, Zheng, Cheng, Xi, Zhang, Qian-Qian, Niu, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756239/
https://www.ncbi.nlm.nih.gov/pubmed/35071497
http://dx.doi.org/10.21037/atm-21-3710

Ejemplares similares

Ejemplares similares