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Elsevier电子期刊(27)

在“Elsevier电子期刊”中，命中：27条，耗时：0.0539752 秒

在所有数据库中总计命中：47条

1.Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

作者：Takao Togawa ; MD¹ ; Tokio Sugiura ; MD ; PhD¹ ; ^{tokio@med.nagoya-cu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Koichi Ito ; MD ; PhD¹ ; Takeshi Endo ; MD ; PhD¹ ; Kohei Aoyama ; MD¹ ; Kei Ohashi ; MD¹ ; Yutaka Negishi ; MD¹ ; Toyoichiro Kudo ; MD ; PhD² ; Reiko Ito ; MD ; PhD² ; Atsuo Kikuchi ; MD ; PhD³ ; Natsuko Arai-Ichinoi ; MD ; PhD³ ; Shigeo Kure ; MD ; PhD³ ; Shinji Saitoh ; MD ; PhD¹

关键词：ALGS ; Alagille syndrome ; ALT ; Alanine aminotransferase ; AR ; Autosomal-recessive inheritance ; AST ; Aspartate aminotransferase ; BRIC ; Benign recurrent intrahepatic cholestasis ; CNV ; Copy number variation ; D.Bil ; Direct bilirubin ; DJS ; Dubin-Johnson syndrome ; GGT ; Gamma glutamyl transpeptidase ; HGVB ; Human Genetic Variation Browser ; Ion PGM ; Ion Torrent Personal Genome Machine ; IR 4.0 ; Ion Reporter 4.0 ; MAF ; Minor allele frequency ; MLPA ; Multiplex ligation-dependent probe amplification ; NGS ; Next-g

刊名：The Journal of Pediatrics

出版年：2016

2.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

3.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

4.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

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.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

7.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

8.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

9.Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

作者：Yoshiyuki Okano^a ; ^{okano@med.osaka-cu.ac.jp} ; Kyoko Kobayashi^b ; Kenji Ihara^c ; Tetsuya Ito^d ; Makoto Yoshino^e ; ^f ; Yoriko Watanabe^f ; Shunsaku Kaji^g ; Toshihiro Ohura^h ; Masayoshi Nagaoⁱ ; Atsuko Noguchi^j ; Sotaro Mushiake^k ; Naohiro Hohashi^l ; Tomoko Hashimoto-Tamaoki^a

关键词：Citrullinemia ; Citrin ; Aspartate&ndash ; glutamate carrier ; Fatigue ; QOL ; Mitochondria

刊名：Molecular Genetics and Metabolism

出版年：2013

10.Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency

作者：Takeyori Saheki^a ; ^b ; ^c ; ; Kanako Inoue^b ; Hiromi Ono^b ; Natsumi Katsura^b ; Mana Yokogawa^b ; Yukari Yoshidumi^b ; Sumie Furuie^a ; Eishi Kuroda^c ; Miharu Ushikai^c ; Akihiro Asakawa^c ; Akio Inui^c ; Kazuhiro Eto^d ; Takashi Kadowaki^e ; David S. Sinasac^f ; ^g ; Ken-ichi Yamamura^a ; Keiko Kobayashi^h ; ¹

关键词：AGC ; aspartate&ndash ; glutamate carrier ; ASS ; argininosuccinate synthetase ; CTLN2 ; adult-onset type II citrullinemia ; Ctrn-KO ; Slc25a13 (citrin) knockout ; KO ; knockout ; MCT ; medium-chain triglycerides ; mGPD ; mitochondrial glycerol-3-phosphate dehydrogenase

刊名：Molecular Genetics and Metabolism

出版年：2012

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