Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-007-0651-6
Reference49 articles.
1. Abadie V, Berthelot J, Feillet F, et al (2005) Management of phenylketonuria and hyperphenylalaninemia: the French guidelines. Arch Pédiatr 12: 594–601.
2. American Academy of Pediatrics (2001) Committee on Genetics. Pediatrics 107: 427–428.
3. Bélanger-Quintana A, García MJ, Castro M, et al (2005) Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab 86: S61–66.
4. Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002. Mol Genet Metab 77: 304–313.
5. Blaskovics ME, Schaeffler GE, Hack S (1974) Phenylalaninemia: differential diagnosis. Arch Dis Child 49: 835–843.
Cited by 10 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 noncoding RNA modulator potentiates phenylalanine metabolism in mice;Science;2021-08-06
2. Phenylketonuria: a review of current and future treatments;TRANSL PEDIATR;2015
3. Phenylketonuria Scientific Review Conference: State of the science and future research needs;Molecular Genetics and Metabolism;2014-06
4. Neurocognitive function in mild hyperphenylalaninemia;Developmental Medicine & Child Neurology;2011-03-21
5. Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients;Molecular Genetics and Metabolism;2011-01
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