Molecular analysis of maple syrup urine disease in Jordanian families-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Molecular analysis of maple syrup urine disease in Jordanian families

Published:2016-12 Issue: Volume:10 Page:81-85
ISSN:2214-5400
Container-title:Meta Gene
language:en
Short-container-title:Meta Gene

Author:

Jaradat Saied A.,Al-Qa'qa' Kefah,Amayreh Wajdi,Backe Paul Hoff,Al-Hawamdeh Ali,Karam Maha,Alzoubi Batool,Deebajah Hebah,Al Rababah Buthaina

Funder

Princess Haya Biotechnology Center at Jordan University of Science and Technology

Southeastern Norway Regional Health Authorities Technology Platform for Structural Biology and Bioinformatics

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease;AEvarsson;Structures,2000

2. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β;Bashyam;J. Cell. Biochem.,2012

3. Nonsense-mediated mRNA decay (NMD) mechanisms;Brogna,2009

4. Diagnosis and mutational analysis of maple syrup urine disease using cell cultures;Chuang;Methods Enzymol.,2000

5. Maple syrup urine disease (branched-chain ketoaciduria);Chuang,2001

Cited by 3 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. Spectrum of Genetic Variants Associated with Maple Syrup Urine Disease in the Middle East and North Africa (MENA) Region: A Systematic Review;2024-03-05

2. Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier;Laboratory Medicine;2022-06-03

3. The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome;Molecular Genetics & Genomic Medicine;2021-08-25

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