Novel GALTvariations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel GALTvariations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

Published:2014-08-15 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Choi Rihwa,Jo Kyoung Il,Ko Dae-Hyun,Lee Dong Hwan,Song Junghan,Jin Dong-Kyu,Ki Chang-Seok,Lee Soo-Youn,Kim Jong-Won,Lee Yong-Wha,Park Hyung-Doo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0094-5/fulltext.html

Reference30 articles.

1. Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ: The human galactose-1-phosphate uridyltransferase gene. Genomics. 1992, 14 (2): 474-480. 10.1016/S0888-7543(05)80244-7.

2. Bosch AM: Classical galactosaemia revisited. J Inherit Metab Dis. 2006, 29 (4): 516-525. 10.1007/s10545-006-0382-0.

3. Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D’Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H: The adult galactosemic phenotype. J Inherit Metab Dis. 2012, 35 (2): 279-286. 10.1007/s10545-011-9372-y.

4. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012, 35 (6): 1037-1049. 10.1007/s10545-012-9477-y.

5. Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR: Identification of novel mutations in classical galactosemia. Hum Mutat. 2005, 25 (5): 502-10.1002/humu.9330.

Cited by 9 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. Comparison of In Vitro and In Silico Assessments of Human Galactose-1-Phosphate Uridylyltransferase Coding Variants;Cureus;2023-01-10

2. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review;Biology;2022-09-02

3. A founder noncoding GALT variant interfering with splicing causes galactosemia;Journal of Inherited Metabolic Disease;2020-08-21

4. High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia;Frontiers in Pediatrics;2020-08-05

5. Newborn screening for galactosaemia;Cochrane Database of Systematic Reviews;2020-06-22

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