The genotype-phenotype correlation in Pompe disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference85 articles.
1. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial;Amalfitano;Genet Med,2001
2. Frequency of glycogen storage disease type II in The Netherlands: Implications for diagnosis and genetic counselling;Ausems;Eur J Hum Genet,1999
3. Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid alpha-glucosidase activity;Bali;Muscle Nerve,2011
4. The African origin of the common mutation in African American patients with glycogen-storage disease type II;Becker;Am J Hum Genet,1998
5. Genetic heterogeneity in acid alpha-glucosidase deficiency;Beratis;Am J Hum Genet,1983
Cited by 93 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. Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease;Molecular Genetics & Genomic Medicine;2024-07
2. Diaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration;Journal of the Neurological Sciences;2024-05
3. Beyond Biology;Rules and Exceptions in Biology: from Fundamental Concepts to Applications;2024
4. Glycogen storage diseases;Nature Reviews Disease Primers;2023-09-07
5. Dissecting the multifaced function of transcription factor EB (TFEB) in human diseases: From molecular mechanism to pharmacological modulation;Biochemical Pharmacology;2023-09
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