Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia

Published:2001-11 Issue:3 Volume:74 Page:396-398
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Vilaseca M.A.,Kobayashi K.,Briones P.,Lambruschini N.,Campistol J.,Tabata A.,Alomar A.,Rodès M.,Lluch M.,Saheki T.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference11 articles.

1. Urea cycle enzymes;Brusilow,1995

2. Citrullinemia. Clinical experience with 23 cases;Tokatli;Turk J Pediatr,1998

3. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia;Kobayashi;J Biol Chem,1990

4. Additional mutations in argininosuccinate synthetase causing citrullinemia;Kobayashi;Mol Biol Med,1991

5. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia;Kobayashi;Am J Hum Genet,1994

Cited by 20 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. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing;Orphanet Journal of Rare Diseases;2018-10-01

2. Replacement Therapies in Metabolic Disease;Current Pharmaceutical Biotechnology;2018-08-20

3. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations;Human Mutation;2017-02-15

4. Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation;Journal of Medical Genetics;2016-06-10

5. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases;Orphanet Journal of Rare Diseases;2014-11-30

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