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Elsevier电子期刊(73)

在“Elsevier电子期刊”中，命中：73条，耗时：小于0.01 秒

在所有数据库中总计命中：148条

1.White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

作者：Toshiyuki Yamamoto^a ; ^{yamamoto.toshiyuki@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Seiichiro Yoshioka^b ; Yoshinori Tsurusaki^c ; Shimada Shino^a ; ^d ; Keiko Shimojima^a ; Yosuke Shigematsu^e ; Yoshihiro Takeuchi^b ; Naomichi Matsumoto^c

关键词：l-2-Hydroxyglutaric aciduria (l-2-HGA) ; L2HGDH ; Subcortical white matter abnormalities ; Genotype-first approach ; Clinical exome sequencing

刊名：Brain and Development

出版年：2016

2.In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

作者：Elena Anghileri^a ; ^{elena.anghileri@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author} ; Nicola Bertolino^b ; Ettore Salsano^c ; Luigi Antelmi^d ; Patrizia Carpinelli^e ; Barbara Castellotti^f ; Ileana Zucca^b ; Cinzia Gellera^f ; Raffaele Bisogno^g ; ^h ; Claudio Caccia^f ; Valeria Cuccarini^g

关键词：ADC ; Apparent Diffusion Coefficient ; cMRI ; conventional magnetic resonance imaging ; CRBL ; Cramé ; r-Rao lower bounds ; CSF ; cerebro-spinal fluid ; DWI ; Diffusion weighted images ; EDDS ; Expanded Disability Status Scale ; FLAIR ; Fluid-Attenuated Inversion Recovery ; L2HG ; L-2-hydroxyglutarate ; L2HGA ; L-2-Hydroxyglutaric aciduria ; L2HGDH ; L-2-hydroxyglutarate dehydrogenase gene ; IDH ; Isocitrate-Dehydrogenase 1/2 ; MRM ; multiple reaction monitoring mode ; MRS ; Magnetic resonance spectroscopy ; NAA ; N-a

刊名：Brain Research

出版年：2016

3.MRI features in 17 patients with l2 hydroxyglutaric aciduria

作者：Hé ; la Fourati^a ; ^b ; ^{fourati_hela@yahoo.fr} ; ^{fouratihela15@gmail.com} ; Emna Ellouze^b ; ^c ; Mourad Ahmadi^a ; Dhouha Chaari^b ; Fatma Kamoun^b ; ^c ; Ines Hsairi^b ; ^c ; Chahnez Triki^b ; ^c ; Zeineb Mnif^b ; ^c

关键词：l-2-HG ; l-2-Hydroxyglutaric ; MRI ; Magnetic resonance imaging ; WM ; white matter ; WMA ; white matter abnormalities ; GM ; Gray matter

刊名：European Journal of Radiology Open

出版年：2016

4.Chiral separation of 2-hydroxyglutaric acid on cinchonan carbamate based weak chiral anion exchangers by high-performance liquid chromatography

作者：Carlos Calderón ; Jeannie Horak ; Michael Lä ; mmerhofer ; ^{michael.laemmerhofer@uni-tuebingen.de" class="auth_mail" title="E-mail the corresponding author}

关键词：Enantioselective chromatography ; 2-Hydroxyglutaric acid (2-hydroxyglutarate) ; Oncometabolite ; 2-Hydroxyglutaric aciduria ; Chiral ion-exchangers ; Cinchona alkaloid

刊名：Journal of Chromatography A

出版年：2016

5.Clinical and molecular investigation in Chinese patients with glutaric aciduria type I

作者：Yanghui Zhang^a ; Haoxian Li^a ; ^b ; Ruiyu Ma^a ; Libin Mei^a ; Xianda Wei^a ; Desheng Liang^a ; ^b ; ^{liangdesheng@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Lingqian Wu^a ; ^b ; ^{wulingqian@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：Glutaric aciduria type I ; GCDH ; Splice site mutation ; Newborn screening

刊名：Clinica Chimica Acta

出版年：2016

6.Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

作者：Benjamin Nota¹ ; ¹⁸ ; ^{benjamin.nota@gmail.com} ; Eduard A. Struys¹ ; ¹⁸ ; Ana Pop¹ ; Erwin E. Jansen¹ ; Matilde R. Fernandez Ojeda¹ ; Warsha A. Kanhai¹ ; Martijn Kranendijk¹ ; Silvy J.M. van Dooren¹ ; Marianna R. Bevova² ; Erik A. Sistermans² ; Aggie W.M. Nieuwint² ; Magalie Barth³ ; Tawfeg Ben-Omran⁴ ; Georg F. Hoffmann⁵ ; Pascale de Lonlay⁶ ; Marie T. McDonald⁷ ; Alf Meberg⁸ ; Ania C. Muntau⁹ ; Jean-Marc Nuoffer¹⁰ ; Rossella Parini¹¹ ; Marie-Hé ; lè ; ne Read¹² ; Axel Renneberg¹³ ; René ; Santer¹⁴ ; Thomas Strahleck¹⁵ ; Emile van Schaftingen¹⁶ ; Marjo S. van der Knaap¹⁷ ; Cornelis Jakobs¹ ; Gajja S. Salomons¹ ; ^{g.salomons@vumc.nl}

刊名：The American Journal of Human Genetics

出版年：2013

7.Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1

作者：Bastian Thies ; Catherine Meyer-Schwesinger ; Jessica Lamp ; Michaela Schweizer ; David M. Koeller ; Kurt Ullrich ; Thomas Braulke ; Chris M¨¹hlhausen

关键词：GA ; glutaric acid ; GA1 ; glutaric aciduria type 1 ; GABA ; ¦Ã-aminobutyric acid ; GCDH ; glutaryl-CoA dehydrogenase ; HPD ; high protein diet ; HNF ; hepatocyte nuclear factor ; MUP1 ; major urinary protein 1 ; NaC ; sodium-dependent dicarboxylate cotransporter ; ND ; n

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease

出版年：2013

8.Cerebral Multicystic Lesions in a Child With L-2 Hydroxyglutaric Aciduria: A Rare Disease and a Rare Association

作者：Sedat I艧谋kay

刊名：Pediatric Neurology

出版年：February, 2014

9.A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies

作者：M. ; Kranendijk^a ; G.S. ; Salomons^a ; K.M. ; Gibson^b ; E. ; Van Schaftingen^c ; C. ; Jakobs^a ; ; ^{c.jakobs@vumc.nl} ; E.A. ; Struys^a

关键词： ; small-caps"">D-2-hydroxyglutaric aciduria ; 2-hydroxyglutarate ; Isocitrate dehydrogenase 2 ; IDH2 R140Q gain-of-function ; Enzyme assay ; Lymphoblast model

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease

出版年：2011

10.Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I ¡ª A decade of experience

作者：Stefan K?lker ; S.P. Nikolas Boy ; Jana Heringer ; Edith M¨¹ller ; Esther M. Maier ; Regina Ensenauer ; Chris M¨¹hlhausen ; Andrea Schlune ; Cheryl R. Greenberg ; David M. Koeller ; Georg F. Hoffmann ; Gisela Haege ; Peter Burgard

关键词：3-OH-GA ; 3-hydroxyglutaric acid ; AAS ; amino acid supplement ; ANOVA ; analysis of variance ; BBB ; blood&ndash ; brain barrier ; CAT1 ; cationic amino acid transporter 1 ; GA ; glutaric acid ; GA-I ; glutaric aciduria type I ; GCDH ; glutaryl-CoA dehydrogenase (EC 1.3.

刊名：Molecular Genetics and Metabolism

出版年：2012

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