Ophthalmic Abnormalities in Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency
Author:
Publisher
SLACK, Inc.
Subject
Ophthalmology,General Medicine,Pediatrics, Perinatology and Child Health
Reference21 articles.
1. 1. Wadman SK. Duran M Beemer FA et al. Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase. J Inker MetabDis. 1983;6(suppl 1):S78-S83.
2. 2. Johnson JL Raj agopalan KV Wadman SK. Human molybdenum cofactor deficiency. Adv Exp Med Bio/. 1993;338:373-378.
3. 3. Munnich A Saudubray JM Charpentier C Ogier H Coudé FX Frézal J. Multiple molybdo enzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: two additional cases in a new family. J Inker Metab Dis. 1983;6
4. 4. Slot HBMJ Overweg-Plandsoen WCG Bakker HD et al. Molybdenumcofactor deficiency: an easily missed cause of neonatal convulsions. Neuropediatrics. 1993;24: 139-142.
5. 5. Aukett A Bennett MJ HoskJng GP. Molybdenum cofactor deficiency: an easily missed inborn error of metabolism. Dev Med Child Neural. 1988:30:531-535.
Cited by 12 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. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies;Journal of Inherited Metabolic Disease;2024-04-16
2. Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review;HRB Open Research;2021-11-23
3. Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family;Frontiers in Genetics;2021-05-07
4. Neurometabolic disease and the eye;Taylor and Hoyt's Pediatric Ophthalmology and Strabismus;2017
5. Neonatal molybdenum cofactor deficiency and ectopia lentis in a Saudi Arabian patient;International Journal of Pediatrics and Adolescent Medicine;2014-09
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