Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II

Published:2022-05-01 Issue:3 Volume:42 Page:373-375
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kim Hwa Young¹^ORCID,Kim Man Jin²³^ORCID,Seong Moon-Woo²³^ORCID,Ko Jung Min¹³^ORCID

Affiliation:

1. Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

2. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

3. Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

Funder

Seoul National University Hospital

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

http://pdf.medrang.co.kr/ALM/2022/042/ALM042-03-373.pdf

Reference10 articles.

1. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

2. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution

3. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

4. Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

5. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

Cited by 1 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. Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan;Molecular Genetics and Metabolism Reports;2023-12

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