The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine β-synthase deficiency
Author:
Affiliation:
1. ; National Center for Inherited Metabolic Disorders; The Children's Hospital; Temple Street Dublin 1 Ireland
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1010525528842/fullpdf
Reference13 articles.
1. Psychiatric manifestations of homocystinuria due to cystathionine β-synthase deficiency: prevalence, natural history and relationship to neurologic impairment and vitamin B6-responsiveness;Abbott;Am J Med Genet,1987
2. Homocystinuria
3. Homocystinuria (cystathionine β-synthase deficiency). Results of treatment in late-diagnosed patients;Gröbe;Eur J Pediatr,1980
4. Psychological testing for child and adolescent psychiatrists: a review of the past 10 years;Halperin;J Am Acad Child Adolesc Psychiatry,1998
5. The natural history of homocystinuria due to cystathionine β-synthase deficiency;Mudd;Am J Hum Genet,1985
Cited by 51 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. Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data;Molecular Genetics and Metabolism Reports;2024-09
2. Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?;Journal of Inherited Metabolic Disease;2024-06-14
3. Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances;Disease Models & Mechanisms;2023-11-01
4. New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies;Neurology;2023-07-18
5. Treatment of neurometabolic epilepsies: Overview and recent advances;Epilepsy & Behavior;2023-05
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