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[Research progress of nervous system damage in Pompe disease].

Authors :
Zhang WC
Mao YY
Chen Q
Source :
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2023 Apr 15; Vol. 25 (4), pp. 420-424.
Publication Year :
2023

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.

Details

Language :
Chinese
ISSN :
1008-8830
Volume :
25
Issue :
4
Database :
MEDLINE
Journal :
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Publication Type :
Academic Journal
Accession number :
37073849
Full Text :
https://doi.org/10.7499/j.issn.1008-8830.2211052