Toward deconstructing the phenotype of late-onset Pompe disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference80 articles.
1. Curve length, curve form, and location of lower-end vertebra as a means of identifying the type of scoliosis;Abul-Kasim;J Orthop Surg (Hong Kong),2010
2. Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types;Angelini;Arch Neurol,1972
3. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype;Anneser;Neurology,2005
4. Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation;Ausems;Neurology,2001
5. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid alpha-glucosidase activity;Bali;Muscle Nerve,2011
Cited by 75 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. High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study;Journal of Inherited Metabolic Disease;2024-09-03
2. Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review;Molecular Genetics and Metabolism Reports;2024-06
3. Man who was unable to dive - typical course of Pompe's disease with late onset;Neurologie pro praxi;2024-03-06
4. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry;Neuromuscular Disorders;2024-01
5. Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease;Journal of Neurophysiology;2023-08-01
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