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Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report.

作者信息

Si Xiaoli, Zhang Ruoxia, Yan Shengqiang, Zhao Guohua, Yin Xinzhen, Zhang Baorong

机构信息

Department of Neurology, The Fourth Affiliated Hospital, International Institutes of Medicine, Zhejiang University School of Medicine, Zhejiang, China.

Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang, China.

出版信息

CNS Neurosci Ther. 2022 Oct;28(10):1651-1654. doi: 10.1111/cns.13903. Epub 2022 Jul 7.

DOI:10.1111/cns.13903
PMID:35795986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9437224/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fdb/9437224/8a826e1d65dd/CNS-28-1651-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fdb/9437224/96af8a3b032f/CNS-28-1651-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fdb/9437224/8a826e1d65dd/CNS-28-1651-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fdb/9437224/96af8a3b032f/CNS-28-1651-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fdb/9437224/8a826e1d65dd/CNS-28-1651-g002.jpg

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1
Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report.伴有新突变和罕见表型的晚发型庞贝病：一例报告
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2
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[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].[一名晚发型庞贝病青少年中编码酸性α-葡萄糖苷酶的基因的两个新突变]
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本文引用的文献

1
Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.中国东部晚发型庞贝病患者队列的临床表现及酸性α-葡萄糖苷酶突变特征分析
Ann Transl Med. 2021 Dec;9(24):1803. doi: 10.21037/atm-21-3710.
2
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.对患有庞贝病的阿塞拜疆土耳其患者进行临床评估和酶活性分析后，检测 GAA 基因突变。
Metab Brain Dis. 2020 Oct;35(7):1127-1134. doi: 10.1007/s11011-020-00586-3. Epub 2020 Jun 5.
3
compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.
与自噬损伤相关的复合杂合突变导致庞贝病患者脑梗死。
Aging (Albany NY). 2020 Mar 3;12(5):4268-4282. doi: 10.18632/aging.102879.
4
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.迟发性庞贝病中枢神经系统受累：神经影像学和神经心理学分析的线索。
Eur J Neurol. 2019 Mar;26(3):442-e35. doi: 10.1111/ene.13835. Epub 2018 Nov 15.
5
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.中国大陆患者婴儿型庞贝病的临床与分子特征：两种常见突变的鉴定
Genet Test Mol Biomarkers. 2017 Jun;21(6):391-396. doi: 10.1089/gtmb.2016.0424. Epub 2017 Apr 10.
6
Improved exercise tolerance after enzyme replacement therapy in Pompe disease.庞贝病酶替代治疗后运动耐量的改善。
Med Sci Sports Exerc. 2012 May;44(5):771-5. doi: 10.1249/MSS.0b013e31823e6579.
7
Rapid progressive course of later-onset Pompe disease in Chinese patients.中国患者迟发性庞贝病的快速进展病程。
Mol Genet Metab. 2011 Nov;104(3):284-8. doi: 10.1016/j.ymgme.2011.06.010. Epub 2011 Jun 22.
8
Pompe's disease.庞贝氏病
Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X.
9
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.扩张性动脉病和基底动脉延长扩张症并发晚发型庞贝病。
Neurology. 2008 May 27;70(22):2063-6. doi: 10.1212/01.wnl.0000313367.09469.13.
10
Glycogen storage disease type II: clinical overview.II型糖原贮积病：临床概述
Acta Myol. 2007 Jul;26(1):42-4.