Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02435990
Reference12 articles.
1. Blaskovics M, Giudici TA (1988) A new variant of biopterin deficiency.N Engl J Med 319: 1611–1612.
2. Blau N, Dhondt J-L, Kuster Th, Curtius HCh (1988) New variant of hyperphenylalaninemia with excretion of 7-substituted pterins.Eur J Pediatr 148: 176.
3. Blau N, Curtius HCh, Kuster Th et al (1989) Primapterinuria: a new variant of atypical phenylketonuria.J Inher Metab Dis 12 (suppl 2): 335–338.
4. Curtius HCh, Kuster Th, Matasovic A, Blau N, Dhondt J-L (1988) Primapterin, anapterin and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.Biochem Biophys Res Commun 153: 715–721.
5. Curtius HCh, Adler C, Rebrin I, Heizmann C, Ghisla S (1990a) 7-Substituted pterins: Formation during phenylalanine hydroxylation in the absence of dehydratase.Biochem Biophys Res Commun 172: 1060–1066.
Cited by 8 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. Determinants of oligomerization of the bifunctional protein DCoHα and the effect on its enzymatic and transcriptional coactivator activities;Archives of Biochemistry and Biophysics;2008-09
2. Promoter Analysis of the Drosophila melanogaster Gene Encoding the Pterin 4α-Carbinolamine Dehydratase;Molecules and Cells;2001-10
3. Molecular characterization of the Drosophila melanogaster gene encoding the pterin 4α-carbinolamine dehydratase;Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology;1998-10
4. Mutations in the pterin-4α-carbinolamine dehydratase ( PCBD ) gene cause a benign form of hyperphenylalaninemia;Human Genetics;1998-09-02
5. Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH);The American Journal of Human Genetics;1998-06
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