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在“Elsevier电子期刊”中，命中：29条，耗时：小于0.01 秒

1.AGC1/2, the mitochondrial aspartate-glutamate carriers

作者：N.D. Amoedo^a ; ^b ; ^c ; ¹ ; G. Punzi^a ; ^b ; ^d ; ¹ ; E. Obre^a ; ^b ; D. Lacombe^a ; ^b ; A. De Grassi^d ; C.L. Pierri^d ; ^{ciroleopierri@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; ^{ciro.pierri@uniba.it" class="auth_mail" title="E-mail the corresponding author} ; R. Rossignol^a ; ^b ; ^{rossig@u-bordeaux2.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：AGC ; aspartate/glutamate carrier ; CNS ; central nervous system ; CTLN2 ; Type II citrullinemia ; G3P ; glycerol 3 phosphate ; GOT ; Glutamic-oxaloacetic transaminase ; LDH ; lactate dehydrogenase ; MAS ; malate aspartate shuttle ; MCF ; mitochondrial carrier family ; MCT ; monocarboxylate transporter ; MüC ; Mü ; ller cells ; NiCCD ; Neonatal intrahepatic caused by citrin deficiency ; OAA ; oxaloacetate ; OMIM ; Online mendelian inheritance in man database ; OXPHOS ; Oxidative Phosphorlation ; PK ; pyruvate kinase

刊名：Biochimica et Biophysica Acta (BBA)-Molecular Cell Research

出版年：2016

2.Carbon encapsulation strategy of Ni co-catalyst: Highly efficient and stable Ni@C/CdS nanocomposite photocatalyst for hydrogen production under visible light

作者：Tianyou Peng^a ; ^{typeng@whu.edu.cn} ; Xiaohu Zhang^a ; Peng Zeng^a ; Kan Li^a ; Xungao Zhang^a ; ^{xgzhang66@whu.edu.cn} ; Xingguo Li^b

关键词：Photocatalytic activity ; CdS ; Hydrogen production ; Carbon encapsulated strategy ; Nanocomposite

刊名：Journal of Catalysis

出版年：2013

3.A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study

作者：Giuseppe ; Fiermonte^a ; ; ¹ ; ; ^{gfierm@farmbiol.uniba.it} ; Giovanni ; Parisi^a ; ; ¹ ; Diego ; Martinelli^b ; Francesco ; De Leonardis^a ; Giuliano ; Torre^c ; Ciro Leonardo ; Pierri^a ; Alessia ; Saccari^c ; Francesco Massimo ; Lasorsa^a ; Angelo ; Vozza^a ; Ferdinando ; Palmieri^a ; Carlo ; Dionisi-Vici^b

关键词：NICCD ; Urea cycle defect ; Aspartate/glutamate carrier

刊名：Molecular Genetics and Metabolism

出版年：2011

4.A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing

作者：Gang Liu ; Xiaoming Wei ; Rui Chen ; Hanlin Zhou ; Xiaoyan Li ; Yan Sun ; Shuqi Xie ; Qian Zhu ; Ning Qu ; Guanghui Yang ; Yuxing Chu ; Haitao Wu ; Zhangzhang Lan ; Jinming Wang ; Yi Yang ; Xin Yi

关键词：A ; adenosine ; AA ; amino acid(s) ; ALP ; alkaline phosphatase ; ALT ; alanine transaminase ; ASS ; argininosuccinate synthetase 1 ; ASS1 ; gene encoding argininosuccinate synthase 1 ; AST ; aspartate aminotransferase ; bp ; base pair(s) ; BWA ; Burrows Wheeler Aligner ; C ; cytidine ; CTLN ; citrullinaemia ; CTLN1 ; type I citrullinaemia ; CTLN2 ; adult-onset type II citrullinaemia ; E ; glutamic acid ; FAH ; gene encoding fumarylacetoacetate hydrolase ; FTTDCD ; failure to thrive and dyslipidaemia caused by citrin deficien

刊名：Gene

出版年：10 January, 2014

5.Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System

作者：Szu-Ta Chen ; MD¹ ; ² ; Yi-Ning Su ; MD ; PhD³ ; Yen-Hsuan Ni ; MD ; PhD² ; Wuh-Liang Hwu ; MD ; PhD² ; ³ ; Ni-Chung Lee ; MD² ; ³ ; Yin-Hsiu Chien ; MD ; PhD² ; ³ ; Cheng-Chi Chang ; PhD⁴ ; Huey-Ling Chen ; MD ; PhD² ; ^{hueyling@ntu.edu.tw} ; Mei-Hwei Chang ; MD²

关键词：ALT ; Alanine aminotransferase ; CTLN2 ; Adult-onset type 2 citrullinemia ; HRM ; High-resolution melting ; NICCD ; Neonatal intrahepatic cholestasis caused by citrin deficiency ; PCR ; Polymerase chain reaction ; SNP ; Single-nucleotide polymorphism

刊名：The Journal of Pediatrics

出版年：2012

6.Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis

作者：Wei-Xia Lin ; Zhan-Hui Zhang ; Mei Deng ; Xiang-Ran Cai ; Yuan-Zong Song

关键词：CD ; citrin deficiency ; NICCD ; neonatal intrahepatic cholestasis caused by citrin deficiency ; PBLs ; peripheral blood lymphocytes ; PCR ; polymerase chain reaction ; LA-PCR ; long and accurate-PCR ; RFLP ; restriction fragment length polymorphism ; RT-PCR ; reverse

刊名：Gene

出版年：2012

7.Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy

作者：Isidro Vitoria ; Jaime Dalmau ; Carmen Ribes ; Dolores Rausell ; Ana Mar¨ªa Garc¨ªa ; Javier L¨®pez-Montiel ; Vicente Rubio

关键词：Citrullinemia type 2 ; SLC25A13 ; NICCD ; CTLN2 ; Aspartate/glutamate antiporter ; Neonatal cholestasis

刊名：Molecular Genetics and Metabolism

出版年：2013

8.High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan

作者：Jing-Ting Lin^a ; Kwang-Jen Hsiao^b ; ^f ; Chiung-Yu Chen^c ; Cheng-Chung Wu^d ; Shio-Jean Lin^e ; Yen-Yin Chou^e ; Shu-Chu Shiesh^a ; ^{hsieh@mail.ncku.edu.tw}

关键词：Citrullinemia ; SLC25A13 ; NICCD ; High resolution melting analysis

刊名：Clinica Chimica Acta

出版年：2011

9.Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency

作者：Zhan-Hui Zhang ; Wei-Xia Lin ; Mei Deng ; Xin-Jing Zhao ; Yuan-Zong Song ; ^{songyuanzong@vip.tom.com}

关键词：CD ; citrin deficiency ; cDNA ; complementary Deoxyribonucleic acid ; ORF ; open reading frame ; RT-PCR ; reverse transcription-polymerase chain reaction ; NICCD ; neonatal intrahepatic cholestasis caused by citrin deficiency ; LSM ; lymphocyte separation medium ; ED

刊名：Gene

出版年：2012

10.Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

作者：Atsuo Kikuchi^a ; ^{akikuchi-thk@umin.ac.jp} ; Natsuko Arai-Ichinoi^a ; Osamu Sakamoto^a ; Yoichi Matsubara^b ; Takeyori Saheki^c ; ¹ ; Keiko Kobayashi^d ; Toshihro Ohura^e ; Shigeo Kure^a

关键词：CTLN2 ; adult-onset type II citrullinemia ; FRET ; fluorescence resonance energy transfer ; HRM ; high resolution melting ; NICCD ; neonatal intrahepatic cholestasis caused by citrin deficiency ; Tm ; melting temperature

刊名：Molecular Genetics and Metabolism

出版年：2012

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