GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
Author:
Funder
Department of Health Research/Indian Council of Medical Research
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1186/s12887-016-0626-6
Reference19 articles.
1. Sandhoff K, Harzer K. Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci. 2013;33(25):10195–208.
2. Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta. 2006;1758(12):2057–79.
3. Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K. Burden of Lysosomal storage disorders in India: Experience of 387 affected children from a single diagnostic facility. JIMD Rep. 2014;12:51–63.
4. Nalini A, Christopher R. Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients. J Child Neurol. 2014;19(6):447–52.
5. Mahuran D. Biochemical consequences of mutations causing the GM2 gangliosidoses. BiochimBiophys Acta. 1999;1455(2–3):105–38.
Cited by 28 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. Unraveling the diagnostic enigma: laboratory diagnosis of sphingolipid activator protein deficiencies;Journal of Laboratory and Precision Medicine;2024-07
2. Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis;Frontiers in Molecular Neuroscience;2023-11-30
3. Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis;International Journal of Molecular Sciences;2023-09-27
4. Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis;International Journal of Molecular Sciences;2023-05-24
5. Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report;Frontiers in Pediatrics;2023-05-05
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