Alpha‐L‐iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Alpha‐L‐iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

Published:2022-05 Issue:5 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Al Zaabi Nuha Nasser¹^ORCID,Sirajum Muneera²,Al‐Wawi Mohd Zaki²^ORCID,Al Suwaiji Mohammed³

Affiliation:

1. Department of Pediatric Fujairah Hospital Ministry of health and prevention Fujairah UAE

2. Department of Pediatric Ras Al Khaimah University Ras Al Khaimah UAE

3. Department of Medicine Tawam Hospital Department of Health Al Ain UAE

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5904

Reference5 articles.

1. The natural history of MPS I: global perspectives from the MPS I Registry

2. Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications

3. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype

4. Human alpha-L-iduronidase: cDNA isolation and expression.

Cited by 2 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. Identification of a novel mutation of Alpha-L-iduronidase gene in Tunisian families;2024-05-08

2. Glycosidase-targeting small molecules for biological and therapeutic applications;Chemical Society Reviews;2023

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