A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia
Author:
Funder
Pontificia Universidad Javeriana
Ministry of Science, Technology and Innovation
Universidad de los Andes
Publisher
Elsevier BV
Subject
Multidisciplinary
Reference159 articles.
1. Lysosomal exocytosis and lipid storage disorders;Samie;J. Lipid Res.,2014
2. Current molecular genetics strategies for the diagnosis of lysosomal storage disorders;Giugliani;Expert Rev. Mol. Diagn.,2016
3. Lysosomal storage disease overview;Sun;Ann. Transl. Med.,2018
4. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening;Kingma;Best Pract. Res. Clin. Endocrinol. Metabol.,2015
5. Lysosomal diseases: overview on current diagnosis and treatment;Poswar;Genet. Mol. Biol.,2019
Cited by 5 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. Inborn Errors of Metabolism Screening in Neonates: Current Perspective with Diagnosis and Therapy;Current Pediatric Reviews;2022-11
2. Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA;Gene Therapy;2022-05-18
3. Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications;International Journal of Molecular Sciences;2021-09-17
4. Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries;Molecular Genetics and Metabolism Reports;2021-09
5. Human recombinant lysosomal β‐Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay‐Sachs fibroblasts;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-10-27
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