HYPERPHENYLALANINEMIA

作品数：4被引量：6H指数：2
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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 Journal》《Medical Bulletin of Shanghai Jiaotong University》《World Journal of Pediatrics》更多>>
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Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
《World Journal of Pediatrics》2019年第1期66-71,共6页Pei-Zhong Bao Jun Ye Lian-Shu Han Wen-Juan Qiu Hui-Wen Zhang Yong-Guo Yu Jian-Guo Wang Xue-Fan Gu 
Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase de...
关键词：6-Pyruvoyltetrahydropterin SYNTHASE HYPERPHENYLALANINEMIA Isoxanthopterin PHENYLALANINE HYDROXYLASE PTERIN 
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 
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China被引量：4
《Chinese Medical Journal》2002年第2期57-61,151-152,共7页叶军 刘哓青 马燮琴 张雅芬 黄哓东 陈瑞冠 顾学范 
theShanghaiScientificandTechnologyCommittee (No .95 41190 3)
Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobi...
关键词：phenylketonuria   ·   gene mutation   ·   neonatal screening  ·   tetrahydrobiopterin deficiency 
TWENTY-ONE PKU OUT OF 358767 NEWBORNS——THE INCIDENCE OF PKU IN SHANGHAI,CHINA
《Medical Bulletin of Shanghai Jiaotong University》1990年第2期24-25,共2页陈瑞冠 潘星时 钱大龙 郭华 
A study on incidence of phenylketonuria (PKU) by neonatal screening was done in Shanghai. Twenty-one cases of PKU out of 358767 newborns screened during 7 years were comfirmed with the incidence of about 1/17000. This...
关键词：PHENYLKETONURIA PERSISTENT HYPERPHENYLALANINEMIA 
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