DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): Elevated plasma and urinary 2-oxoglutarate in three unrelated patients
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference12 articles.
1. ATYPICAL ERYTHROKERATODERMA WITH DEAFNESS, PHYSICAL RETARDATION AND PERIPHERAL NEUROPATHY
2. Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers
3. Studies on the quantitative freeze-drying of aqueous solutions of some metabolically important aliphatic acids prior to gas-liquid chromatographic analysis
4. Congenital Deafness Associated with Onychodystrophy
Cited by 27 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. Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature;European Journal of Dermatology;2020-08
2. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases;The American Journal of Human Genetics;2019-08
3. DOOR syndrome: A case report and its embryological basis;International Journal of Pediatric Otorhinolaryngology;2019-02
4. Hereditary and Congenital Nail Disorders;Baran & Dawber's Diseases of the Nails and their Management;2018-12-07
5. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability;Genetics in Medicine;2016-09
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