Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2017_46
Reference32 articles.
1. Aylett SB, Neergheen V, Hargreaves IP, Eaton S, Land JM, Rahman S, Heales SJ (2013) Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen species. Neurochem Int 63:750–755
2. Beesley CE, Child AH, Yacoub MH (1998) The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online. Hum Mutat 11:413
3. Bercury KK, Dai J, Sachs HH, Ahrendsen JT, Wood TL, Macklin WB (2014) Conditional ablation of raptor or rictor has differential impact on oligodendrocyte differentiation and CNS myelination. J Neurosci 34:4466–4480
4. Bercury KK, Macklin WB (2015) Dynamics and mechanisms of CNS myelination. Dev Cell 32:447–458
5. Broomfield A, Fletcher J, Davison J et al (2016) Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy. J Inherit Metab Dis 39:261–271
Cited by 19 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease;Molecular Genetics and Metabolism;2024-02
2. Gene and Cellular Therapies for Leukodystrophies;Pharmaceutics;2023-10-24
3. Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis;Molecular Genetics and Metabolism;2023-05
4. Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease;Metabolomics;2023-03-29
5. Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease;Genetics in Medicine;2023-01
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3