Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
Author:
Affiliation:
1. Department of Medical Genetics, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil
Publisher
FapUNIFESP (SciELO)
Subject
Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://journals.sagepub.com/doi/pdf/10.1177/2326409816643098
Reference23 articles.
1. Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease
2. Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis
3. Recurrent and novel GLB1 mutations in India
4. GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects
5. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure–function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein
Cited by 2 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. Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies;Cell Biochemistry and Function;2023-11-29
2. Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis;Metabolic Brain Disease;2018-09-28
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