Research progress of nervous system damage in Pompe disease / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 420-424, 2023.
Article
de Zh
| WPRIM
| ID: wpr-981973
Bibliothèque responsable:
WPRO
ABSTRACT
Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease.
Mots clés
Texte intégral:
1
Base de données:
WPRIM
Sujet principal:
Qualité de vie
/
Glycogénose de type II
/
Alpha-Glucosidase
/
Thérapie enzymatique substitutive
Limites:
Humans
Langue:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Année:
2023
Type de document:
Article