云南高校图书馆联盟文献共享服务平台- PHENYLKETONURIA

PHENYLKETONURIA: 作品数：16被引量：29H指数：3; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：刘哓青叶军马燮琴张雅芬陈瑞冠更多>>; 相关机构：广州市妇婴医院上海第二医科大学附属新华医院更多>>; 相关期刊：《Chinese Medical Sciences Journal》《北京医学》《Open Journal of Genetics》《Science China(Life Sciences)》更多>>; 相关基金：国家自然科学基金World Health Organization更多>>

High Fischer ratio oligopeptides in food:sources,functions and application prospects被引量：1: 《Journal of Future Foods》2024年第2期128-134,共7页Zhen Wang Xinrui Zhang Luyang Wang Xingqi Ou Jihong Huang; the Zhongyuan Scholars in Henan Province(192101510004);Major Science and Technology Projects for Public Welfare of Henan Province(201300110300);Key Technology Research;Development and Demonstration Applications for Integrated Development of the Whole Wheat Industry Chain(221100110700);Central Government Guides Local Funds for Science and Technology Development(Z20221341069).; High Fischer ratio oligopeptides(HFROs)are a group of oligopeptides containing high levels of branched-chain amino acids(BCAA)and low levels of aromatic amino acids(AAA).HFROs have received a lot of attention as they ...; 关键词：Fischer ratio OLIGOPEPTIDES Amino acids5- Hydroxytryptamine PHENYLKETONURIA

Expression of phenylalanine ammonia lyase as an intracellularly free and extracellularly cell surface-immobilized enzyme on a gut microbe as a live biotherapeutic for phenylketonuria被引量：3: 《Science China(Life Sciences)》2023年第1期127-136,共10页Yu Jiang Bingbing Sun Fenghui Qian Feng Dong Chongmao Xu Wuling Zhong Rui Huang Qiwei Zhai Yu Jiang Sheng Yang; supported by the National Natural Science Foundation of China(21825804,31921006);the National Science&Technology Major Project“Key New Drug Creation and Manufacturing Program”,China(2018ZX09711002-019);the Shanghai Municipal Science and Technology Major Project and the National Key Research and Development Program of China(2018YFA0800603)。; Phenylketonuria(PKU),a disease resulting in the disability to degrade phenylalanine(Phe)is an inborn error with a 1 in 10,000 morbidity rate on average around the world which leads to neurotoxicity.As an potential alt...; 关键词：phenylalanine ammonia lyase cell surface display PHENYLKETONURIA TYS8500 oral administration

Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families被引量：1: 《Chinese Medical Journal》2021年第13期1626-1628,共3页Yang Xiao Qiang Gu Hai-Rong Wu Song-Tao Wang Pei Pei Xue-Fei Zheng Hong Pan Yi-Nan Ma; To the Editor:Phenylketonuria(PKU)is an autosomal recessive genetic disease caused by pathogenic variants in the phenylalanine hydroxylase(PAH)gene encoding phenylalanine hydroxylase,a key enzyme in the metabo-lism of...; 关键词：DIAGNOSIS HYDROXYLASE maintained

Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria: 《Genes & Diseases》2017年第2期108-110,共3页Volodymyr Pampukha Maryna Nechyporenko Ludmila Livshyts; We cordially thank all PKU families who participated in this study.This study was supported by a grant from the National Academy of Science of Ukraine(no.0115U003747).; Phenylketonuria(PKU)is an autosomal recessive metabolic disorder caused by deficiency of phenylalanine hydroxylase(PAH).The major molecular defects causing PKU are missense mutations of PAH gene.Large deletions of exo...; 关键词：Large deletions Mutation analysis Phenylalanine hydroxylase PHENYLKETONURIA

A novel large deletion(exons 12,13)and a missense mutation(p.G46R)in the PAH in a Japanese patient with phenylketonuria: 《World Journal of Pediatrics》2015年第2期181-184,共4页Yoshihiro Maruo Masafumi Suzaki Katsuyuki Matsui Yu Mimura Asami Mori Haruo Shintaku Yoshihiro Takeuchi; Background:Phenylketonuria(PKU)is caused by a defect in phenylalanine hydroxylase(PAH).More than 500 mutations have been reported for the gene encoding PAH.However,approximately l%-5%of these include large deletions a...; 关键词：large deletion multiplex ligation-dependent probe amplification phenylalanine hydroxylase PHENYLKETONURIA

新生儿苯丙酮尿症、先天性甲状腺功能低下筛查分析(附38286例报告)被引量：6: 《北京医学》2014年第4期275-277,共3页何美丽李娜樊静郭亮; 目的探讨新生儿苯丙酮尿症及先天性甲状腺功能低下筛查的应用价值。方法选择2012年8月至2013年8月38 286例新生儿,对其干血样进行新生儿疾病筛查。苯丙酮尿症筛查指标为血苯丙氨酸(phe),实验室方法用免疫荧光分析法。先天性甲状腺功能...; 关键词：新生儿筛查苯丙酮尿症先天性甲状腺功能低下 PHENYLKETONURIA (PKU) CONGENITAL HYPOTHYROIDISM (CH)

Newborn screening in Zhejiang, China被引量：8: 《Chinese Medical Journal》2012年第4期702-704,共3页Maitusong, Riziwanguli Japaer, Rukeya Zhao Zheng-yan Yang Ru-lai Huang Xiao-lei Mao Hua-qing; Background It has been 11 years since newborn screening started in Zhejiang in 1999.The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009.Methods Blood sample...; 关键词：newborn screening congenital hypothyroidism PHENYLKETONURIA

Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China被引量：2: 《Chinese Medical Journal》2011年第16期2556-2558,共3页Chloe Miu Mak Chun-hung Ko Ching-wan Lam Wai-ling Lau Wai-kwan Siu Sammy Pak-lam Chen Chun-yiu Law Chi-kong Lai Chak-man Yu Albert Yan-wo Chan; Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucas...; 关键词：Hong Kong Chinese HYPERPHENYLALANINEMIA newborn screening PHENYLKETONURIA 6-pyruvoyl-tetrahydropterin synthase deficiency

<i>PAH</i>mutational spectrum: still expanding: 《Open Journal of Genetics》2011年第2期9-12,共4页Laura Vilarinho Sofia Esteves Elisabete Ramos António Amorim Luisa Azevedo; Phenylketonuria (PKU, MIM 261600) is the most common inborn error of amino acid metabolism. To date, a total of more than 500 mutations have been associated with the disease. In this report, the novel p.Glu182Lys muta...; 关键词：PHENYLKETONURIA (PKU) PHENYLALANINE HYDROXYLASE PAH Gene Novel Mutation

Application of Short Tandem Repeat in Prenatal Diagnosis for Phenmylketonuria during the First Trimester: 《Journal of Nanjing Medical University》2003年第2期58-61,共4页赵晓岚叶国玲楚雍烈刘琪蔡晓宁李明丽; Objective : To find a simple and rapid way far the prenatal diagnosis of phenyUce-tonuria (PKU) during the first trimester in order to prevent inborn PKU patients as early as possible. Methods :DNA was extracted respe...; 关键词：prenatal diagnosis PHENYLKETONURIA short tandem repeat first trimester

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