PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Published:2016-04-21 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Choi Rihwa,Park Hyung-Doo,Kang Ben,Choi So Yoon,Ki Chang-Seok,Lee Soo-Youn,Kim Jong-Won,Song Junghan,Choe Yon Ho

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0295-1

Reference34 articles.

1. Brushia RJ, Walsh DA. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Front Biosci. 1999;4:D618–41.

2. Carriere C, Jonic S, Mornon JP, Callebaut I. 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase. Biochim Biophys Acta. 2008;1782(11):664–70.

3. Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Mol Genet Metab. 2014;113(3):171–6.

4. Tsilianidis LA, Fiske LM, Siegel S, Lumpkin C, Hoyt K, Wasserstein M, Weinstein DA. Aggressive therapy improves cirrhosis in glycogen storage disease type IX. Mol Genet Metab. 2013;109(2):179–82.

5. Johnson AO, Goldstein JL, Bali D. Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. J Pediatr Gastroenterol Nutr. 2012;55(1):90–2.

Cited by 14 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. A novel 2.4‐kb PHKA2 deletion in a boy with glycogen storage disease type IXa;Congenital Anomalies;2024-02-15

2. Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report;Journal of Medical Case Reports;2024-01-12

3. Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases;Frontiers in Genetics;2022-08-29

4. Prevalence and Complications of Glycogen Storage Disease in South Korea: A Nationwide Population-Based Study, 2007-2018;BioMed Research International;2022-07-01

5. A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants;BMC Pediatrics;2022-05-12

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