A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

Published:2022-01-10 Issue:2 Volume:23 Page:157-165
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Iacono Salvatore,Del Giudice Elda,Leon Alberta,La Bella Vincenzo,Spataro Rossella

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-021-00682-1.pdf

Reference37 articles.

1. Won JS, Singh AK, Singh I (2016) Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe’s disease. J Neurosci Res 94:990–1006

2. Feltri ML, Weinstock NI, Favret J, Dhimal N, Wrabetz L, Shin D (2021) Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy. Glia https://doi.org/10.1002/glia.24008. Online ahead of print

3. Bradbury AM, Borganzone ER, Sands MS (2021) Krabbe Disease: new hope for an old disease. Neurosci Lett 752:135841e1–135841e7

4. Suzuki K (2003) Globoid cell leukodystrophy (Krabbe’s disease): Update. J Child Neurol 18(9):595–603

5. Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B et al (2013) Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis 36:859–68

Cited by 4 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. The relationship between sphingomyelin and ceramide levels and soft neurological signs in ADHD;Journal of Neural Transmission;2024-09-09

2. Untargeted Lipidomic Approach for Studying Different Nervous System Tissues of the Murine Model of Krabbe Disease;Biomolecules;2023-10-23

3. A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy;Frontiers in Neuroscience;2022-09-07

4. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review;Biology;2022-09-02

同舟云学术

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