A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference78 articles.
1. Prevalence of Lysosomal Storage Disorders;PJ Meikle;JAMA,1999
2. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications;G Yogalingam;Hum. Mutat,2001
3. SanFilippo syndrome: a mini-review;MJ Valstar;J. Inherit. Metab. Dis,2008
4. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations;H Poupetová;J. Inherit. Metab. Dis,2010
5. The cell biology of lysosomal storage disorders;AH Futerman;Nat. Rev. Mol. Cell Biol,2004
Cited by 7 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. Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients;American Journal of Medical Genetics Part A;2023-07-10
2. Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein;PLOS ONE;2020-11-05
3. Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity;PLOS Computational Biology;2020-05-18
4. Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses;International Journal of Molecular Sciences;2019-12-29
5. Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations;Metabolic Brain Disease;2019-06-24
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