Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

Published:2020-06 Issue: Volume:23 Page:100583
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Piraud Monique,Pettazzoni Magali,de Antonio Marie,Vianey-Saban Christine,Froissart Roseline,Chabrol Brigitte,Young Sarah,Laforêt Pascal

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference41 articles.

1. Progress and problems in muscle glycogenoses;Di Mauro;Acta Myol.,2011

2. alpha-Glucosidase deficiency in generalized glycogen storage disease (Pompe’s disease);Hers;Biochem. J.,1963

3. Infantile-onset Pompe disease natural history study group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J. Pediatr.,2006

4. Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients;Hagemans;Brain.,2005

5. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study;Semplicini;J. Inherit. Metab. Dis.,2018

Cited by 21 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. Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy;Molecular Genetics and Metabolism Reports;2024-09

2. Ultra-Performance Liquid Chromatography–Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis;Clinical Chemistry;2024-04-10

3. Enzyme replacement therapy for late-onset Pompe disease;Cochrane Database of Systematic Reviews;2023-12-12

4. GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing;Molecular Genetics and Metabolism Reports;2023-09

5. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel;Molecular Genetics and Metabolism;2023-09

同舟云学术

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