AI帮你理解科学

AI 生成解读视频

AI抽取解析论文重点内容自动生成视频


pub
生成解读视频

AI 溯源

AI解析本论文相关学术脉络


Master Reading Tree
生成 溯源树

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

HUMAN MUTATION, no. 5 (2004): 388.0-399

引用120|浏览30
WOS
下载 PDF 全文
引用

摘要

A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor (tetrahydrobiopterin, BH4) supplementation has been associated with phenylketonuria (PKU) mutations. The underlying molecular mechanism of this responsiveness is as yet unknown and requires a detailed in vitro expression analysis of the associated mutations....更多

代码

数据

0
您的评分 :

暂无评分

标签
评论
avatar
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn