Full-Text Search:
Home|Journal Papers|About CNKI|User Service|FAQ|Contact Us|中文
《Journal of Applied Clinical Pediatrics》 2007-08
Add to Favorite Get Latest Update

Inherited Metabolic Disorders

JING Cheng-xue(Department of Pediatrics,the First Hospital Affiliated to Guangxi Medical University,Nanning 530021,China)  
【CateGory Index】: R725.8
Download(CAJ format) Download(PDF format)
CAJViewer7.0 supports all the CNKI file formats; AdobeReader only supports the PDF format.
【References】
Chinese Journal Full-text Database 1 Hits
1 WU Ling-ling1,XU Yan-hua2,ZHAO Zheng-yan1(1.Department of Child Health Care;2.Department of Neonatal Screening,the Children′s Hospital Zhejiang University School of Medicine,Hangzhou 310003,Zhejiang Province,China);Development and Prospect of Neonatal Screening in China[J];Journal of Applied Clinical Pediatrics;2009-11
【Co-references】
Chinese Journal Full-text Database 10 Hits
1 KONG Xiangdong, SHI Huirong, CHANG Qing, GUO Hongjun, WEI Zhenling Department of Gynecology and Obstetrics, the First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052;Prenatal diagnosis in eight families with classic phenylketonuria[J];Journal of Zhengzhou University(Medical Sciences);2008-01
2 WU Hao1,SHEN Xiao-ming2,LI Yun1,TAO Zheng1,ZHANG Feng-hua2,CHEN Xiang-ping1,JIN Xing-ming3 (1.Department of Otolaryngology-Head & Neck Surgery,Shanghai Children's Hearing and Speech Disorder Center,2.Department of Child Health Care,Xinhua Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai 200092,China;3.Department of Child Health Care,Shanghai Children's Medical Center,School of Medicine,Shanghai Jiaotong University,Shanghai 200127,China);Universal newborn hearing screening and effect of early intervention[J];Journal of Shanghai Jiaotong University(Medical Science);2007-01
3 HAO Hu1,SONG Yuan-zong2,XIAO Xin1,ZHANG Chun-hua3,WANG Zi-neng2(1.Inborn Errors of Metabolism Laboratory,the Center of Perinatal Medicine,the Sixth Affiliated Hospital of Sun Yat-Sen University,Guangzhou 510655,China;2.the Center of Perinatal Medicine,the First Hospital Affiliated to Jinan University,Guangzhou 510632,China;3.Matsumoto Institute of Life Science,Kanazawa 921-8154,Japan);Application of Urease Pretreatment-Gas Chromatography-Mass Spectrometry in the Diagnosis of Methylmalnic Aciduria[J];Journal of Applied Clinical Pediatrics;2008-08
4 ZHOU Lan-xia,ZHAO Li,DU Xiao-yun(Central Laboratory,the First Hospital of Lanzhou University,Lanzhou 730000,Gansu Province,China);Screening Analysis of 93 Children with Phenylketonuria in Gansu Province[J];Journal of Applied Clinical Pediatrics;2008-20
5 SONG Fang~1,JIN Yu-Wei~1,WANG Hong~1,ZHANG Yu-Min~2,YANG Yan-Ling~3,ZHANG Ting~1(1.Capital Institute of Pediatrics, Beijing 100020, China; 2.Beijing Newborn Disease Screening Center,Beijing 100006, China; 3.The First Hospital, Peking University, Beijing 100034, China);Mutations in Exon 7 of the Phenylalanine Hydroxylase(PAH)Gene in Chinese Patients with Phenylketonuria[J];Hereditas(Beijing);2005-01
6 XU Keming, WANG Liwen, CAI Hong, et al. Capital Institute of Pediatrics, Beijing 100020, China;Screening for inborn error of metabolism by using gas chromatography mass spectrometry in high-risk infants[J];Chinexe Journal of Pediatrics;2001-09
7 LUO Xiao ping, WANG Mu ti, WEI Hong, LIANG Yan, WANG Hong wei, LIN Han hua, DONG Yong sui, LIU Wan jun, FANG Jun min, NING Qin Department of Pediatrics, Tongji Hospital, Center for the Diagnosis of Genetic Metabolic Diseases, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China;Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases[J];Chinese Journal of Pediatrics;2003-04
8 GU Xue fan, HAN Lian shu, GAO Xiao lan, YAN Yan ling, YE Jun, QIU Wen juan. Department of Pediatric Endocrinology and Genetic Metabolic Diseases, Xinhua Hospital, Shanghai Second Medical University, Shanghai Institute for Pediatric Research, Shanghai 200092, China;A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China[J];Chinese Journal of Pediatrics;2004-06
9 HAN Lian-shu, GAO Xiao-lan, YE Jun, QIU Wen-juan, GU Xue-fan. Department of Pediatric Endocrinology, Genetic and Metabolic Diseases, Xinhua Hospital, Shanghai Second Medical University, Shanghai Institute for Pediatric Research, Shanghai 200092, China;Application of tandem mass spectrometry in diagnosis of organic acidemias[J];Chinese Journal of Pediatrics;2005-05
10 YUAN Zhe-feng LUO Yan-fei WU Yi-dong SHEN Zheng ZHAO Zheng-yan Department of Internal Medicine,Children's Hospital of Zhejiang University School of Medicine,Hangzhou 310003,China;Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism[J];Chinese Journal of Pediatrics;2007-07
©2006 Tsinghua Tongfang Knowledge Network Technology Co., Ltd.(Beijing)(TTKN) All rights reserved