Identification of two subtypes of infantile acid maltase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference8 articles.
1. Glycogen storage disease type II: acid alpha glucosidase (acid maltase) deficiency;Hirschhorn,1995
2. Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart);Rees;Am J Cardiol,1976
3. Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months;Seifert;Am Heart J,1992
4. Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease);Hers;Biochem J,1963
5. Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mouse;Bijvoet;Hum Mol Genet,1998
Cited by 124 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. Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study;International Journal of Molecular Sciences;2024-08-23
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. Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy;Molecular Metabolism;2024-03
4. Preclinical studies with ground germinated barley (GGB) for oral enzyme replacement therapy (Oral-ERT) in Pompe disease knockout mice;2023-12-28
5. Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement;International Journal of Molecular Sciences;2023-08-26
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