Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9270-8
Reference23 articles.
1. Allen JT, Holton JB, Lennox AC, Hodges IC (1988) Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency. J Inher Metab Dis 11(Suppl 2):243–245
2. Beutler E, Baluda MC (1966) A simple spot screening test for galactosemia. J Lab Clin Med 68:137–141
3. Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJA, Wijburg FA (2002) Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis 25:629–634
4. Gitzelmann R (1965) Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet 2:670–671
5. Gitzelmann R (1967) Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediatr Res 1:14–23
Cited by 55 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. Safety, Pharmacokinetics, and Pharmacodynamics of the New Aldose Reductase Inhibitor Govorestat (AT‐007) After a Single and Multiple Doses in Participants in a Phase 1/2 Study;The Journal of Clinical Pharmacology;2024-07-10
2. Metabolic diseases;Translational Glycobiology in Human Health and Disease;2024
3. Neonatal Hypoglycemia and Hyperglycemia;Avery's Diseases of the Newborn;2024
4. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism;Avery's Diseases of the Newborn;2024
5. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples;Journal of Inherited Metabolic Disease;2023-09-12
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