Disorders of biopterin metabolism
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1067-2
Reference45 articles.
1. Abeling NG, Duran M, Bakker HD, et al (2006) Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab 89(1–2): 116–120. doi: 10.1016/j.ymgme.2006.03.010 .
2. al Aqeel A, Ozand PT, Gascon GG, Hughes H, Reynolds CT,Subramanyam SB (1992) Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin. J Child Neurol 7(Supplement): S26–S30.
3. Bartholomé K (1974) Letter: a new molecular defect in phenylketonuria. Lancet 304(7896): 1580. doi: 10.1016/S0140-6736(74)90337-7 .
4. Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N (2001) Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 69(2): 269–277. doi: 10.1086/321970 .
5. Concolino D, Muzzi G, Rapsomaniki M, Moricca MT, Pascale MG, Strisciuglio P (2008) Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients. J Inherit Metab Dis. doi: 10.1007/s10545-007-0788-3 .
Cited by 125 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. Sexual color ornamentation, microhabitat choice, and thermal physiology in the common wall lizard (Podarcis muralis);Journal of Experimental Zoology Part A: Ecological and Integrative Physiology;2024-08-05
2. An intense 60-day weight-loss course leads to an 18 kg body weight reduction and metabolic reprogramming of soldiers with obesity;PeerJ;2024-07-26
3. The associations between pre-conception urinary phthalate concentrations, the serum metabolome, and live birth among women undergoing assisted reproduction;Environmental Research;2024-07
4. Emerging biosensors in Phenylketonuria;Clinica Chimica Acta;2024-06
5. GTP cyclohydrolase 1and axanthism in ball pythons: a new vertebrate model for pterin-based pigmentation;2024-05-26
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