Suppr超能文献

庞贝病神经系统损害的研究进展

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

作者信息

Zhang Wen-Chao, Mao Ying-Ying, Chen Qian

机构信息

Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15;25(4):420-424. doi: 10.7499/j.issn.1008-8830.2211052.

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.

摘要

庞贝病,也称为糖原贮积病Ⅱ型,是一种罕见的常染色体隐性疾病。随着酶替代疗法的应用,越来越多的庞贝病患者能够存活至成年期,与神经系统相关的临床表现逐渐显现。神经系统受累严重影响庞贝病患者的生活质量,系统了解庞贝病神经系统损伤的临床表现、影像学特征及病理变化,对于庞贝病的早期识别和干预具有重要意义。本文综述了庞贝病神经损伤的研究进展。

相似文献

1
[Research progress of nervous system damage in Pompe disease].
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15;25(4):420-424. doi: 10.7499/j.issn.1008-8830.2211052.
2
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.
J Mol Med (Berl). 2017 May;95(5):513-521. doi: 10.1007/s00109-017-1505-9. Epub 2017 Feb 2.
3
Avalglucosidase alfa: First Approval.
Drugs. 2021 Oct;81(15):1803-1809. doi: 10.1007/s40265-021-01600-3.
6
[Research advances in the diagnosis and treatment of Pompe disease].
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jul;20(7):588-593. doi: 10.7499/j.issn.1008-8830.2018.07.015.

本文引用的文献

1
Small fiber involvement is independent from clinical pain in late-onset Pompe disease.
Orphanet J Rare Dis. 2022 Apr 27;17(1):177. doi: 10.1186/s13023-022-02327-4.
2
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
Mol Genet Metab. 2022 Mar;135(3):179-185. doi: 10.1016/j.ymgme.2022.01.003. Epub 2022 Jan 23.
3
Is the brain involved in patients with late-onset Pompe disease?
J Inherit Metab Dis. 2022 May;45(3):493-501. doi: 10.1002/jimd.12469. Epub 2022 Jan 25.
5
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Orphanet J Rare Dis. 2021 Aug 5;16(1):348. doi: 10.1186/s13023-021-01817-1.
6
Case Studies in Neuroscience: Neuropathology and diaphragm dysfunction in ventilatory failure from late-onset Pompe disease.
J Neurophysiol. 2021 Aug 1;126(2):351-360. doi: 10.1152/jn.00190.2021. Epub 2021 Jun 30.
7
Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.
Mol Genet Metab. 2021 Jul;133(3):261-268. doi: 10.1016/j.ymgme.2021.05.005. Epub 2021 May 13.
10
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
Orphanet J Rare Dis. 2020 Nov 23;15(1):329. doi: 10.1186/s13023-020-01615-1.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验