Overview of symptoms and treatment for lysinuric protein intolerance
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-019-0620-6.pdf
Reference83 articles.
1. Mykkänen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, et al. Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum Mol Genet. 2000;9:431–8.
2. Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, et al. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet. 2000;66:92–9.
3. Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, de Cid R, et al. Identification of SLC7A7, encoding y+ LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999;21:293–6.
4. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, et al. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999;21:297–301.
5. Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, et al. Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI). Mol Genet Metab. 2102;105:408–15.
Cited by 26 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. Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report;2024-01-16
2. Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances;Disease Models & Mechanisms;2023-11-01
3. Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant;Nephrology;2023-09-22
4. Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report;BMC Pediatrics;2023-08-01
5. Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants;Nature Reviews Nephrology;2023-07-12
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