Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-008-0860-5.pdf
Reference16 articles.
1. Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM (2000) Arthrogryposis,renal dysfunction and cholestasis syndrome. Saudi Med J 21:297–299
2. Abu-Sa’da O, Barbar M, Al-Harbi N, Taha D (2005) Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. Clin Dysmorphol. 14:191–196
3. Coleman RA, Van Hove JL, Morris CR et al (1997) Cerebral defect and nephrogenic diabetes insipidus with the ARC syndrome: Additional findings or a new syndrome[ARCC-NDI]. Am J Med Genet 72:335–338
4. Deal JE, Barratt TM, Dillon MJ (1990) Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea- a new syndrome. Pediatr Nephrol 4:308–313
5. Denecke J, Zimmer KP, Kleta R et al (2000) Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case:report and review of the literature. Klin Pediatr 212:77–80
Cited by 16 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. A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype;Case Reports in Genetics;2020-09-24
2. Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome;Human Mutation;2019-09-03
3. An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions;Pediatric Nephrology;2019-08-28
4. An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers;Pediatric Nephrology;2019-08-28
5. CORVET, CHEVI and HOPS – multisubunit tethers of the endo-lysosomal system in health and disease;Journal of Cell Science;2019-05-15
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