Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2
Author:
Funder
Citrin Foundation
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference71 articles.
1. Hereditary disorders of the urea cycle in man: biochemical and molecular approaches;Saheki;Rev. Physiol. Biochem. Pharmacol.,1987
2. Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein;Kobayashi,2000
3. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999
4. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia;Tazawa;J. Pediatr.,2001
5. Possible clinical and histological manifestations of adult-onset type II citrullinemia in early infancy;Tomomasa;J. Pediatr.,2001
Cited by 49 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. Rare cause of recurrent acute pancreatitis in teenage man;eGastroenterology;2024-09
2. The therapeutic landscape of citrin deficiency;Journal of Inherited Metabolic Disease;2024-07-17
3. mRNA therapies: Pioneering a new era in rare genetic disease treatment;Journal of Controlled Release;2024-05
4. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition;Journal of Inherited Metabolic Disease;2024-03-19
5. Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey;International Journal of Neonatal Screening;2024-03-11
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