Pompe disease: A neuromuscular disease with respiratory muscle involvement
Author:
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine
Reference57 articles.
1. Glycogen storage disease type II: acid acid-glucosidase (acid maltase) deficiency;Hirschhorn,2001
2. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease);Raben;Curr Mol Med,2002
3. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling;Ausems;Eur J Hum Genet,1999
4. Prevalence of lysosomal storage diseases in Portugal;Pinto;Eur J Hum Genet,2004
5. Pompe disease diagnosis and management guideline;Kishnani;Genet Med,2006
Cited by 95 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. Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease;Orphanet Journal of Rare Diseases;2024-07-15
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. The value of knowing: preferences for genetic testing to diagnose rare muscle diseases;Orphanet Journal of Rare Diseases;2024-04-22
4. “De Novo” Hypercapnic Respiratory Failure Unmasking Neuromuscular Disorders: Experiences From a Tertiary Care Center and Review of Literature;Journal of Clinical Neuromuscular Disease;2024-03
5. Beyond Biology;Rules and Exceptions in Biology: from Fundamental Concepts to Applications;2024
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