SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases
Author:
Affiliation:
1. Department of Pediatrics; Gene Therapy Center; Minneapolis Minnesota, USA
2. Department of Genetics, Cell Biology and Development; University of Minnesota; Minneapolis Minnesota
Funder
National Institutes of Health
National Institute of Diabetes and Digestive and Kidney Diseases
National Institute of Neurological Disorders and Stroke
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13226/fullpdf
Reference22 articles.
1. Prevalence of lysosomal storage disorders;Meikle;JAMA,1999
2. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry;D'Aco;Eur J Pediatr,2012
3. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry;Scott;J Pediatr,2013
Cited by 9 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. Chitotriosidase as a biomarker for gangliosidoses;Molecular Genetics and Metabolism Reports;2021-12
2. Rare disease awareness and perspectives of physicians in China: a questionnaire-based study;Orphanet Journal of Rare Diseases;2021-04-13
3. A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis;Metabolic Brain Disease;2021-01-04
4. Precision Medicine for Lysosomal Disorders;Biomolecules;2020-07-26
5. A novel gene editing system to treat both Tay–Sachs and Sandhoff diseases;Gene Therapy;2020-01-02
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