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Elsevier电子期刊(125)

在“Elsevier电子期刊”中，命中：125条，耗时：0.020988 秒

在所有数据库中总计命中：182条

1.Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation

作者：Nicholas M. McCrory ; BA¹ ; Mathew J. Edick ; PhD² ; Ayesha Ahmad ; MD³ ; Susan Lipinski ; RD³ ; Jessica A. Scott Schwoerer ; MD⁴ ; Shaohui Zhai ; PhD² ; Kaitlin Justice ; BS² ; Cynthia A. Cameron ; PhD² ; Susan A. Berry ; MD⁵ ; Loren D.M. Pena ; MD ; PhD¹ ; ^{loren.pena@duke.edu} ; on behalf of the Inborn Errors of Metabolism Collaborative^*

关键词：organic acidemia ; newborn screening ; C3 acylcarnitine ; nonketotic ; hyperglycinemia ; hyperammonemia ; longitudinal follow up ; natural ; history

刊名：The Journal of Pediatrics

出版年：2017

2.Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience

作者：Dr. Mahesh H. Hampe ; ^{mahesh.hampe@preventine.com} ; Dr. Shrimant N. Panaskar ; Ashwini A. Yadav ; Dr. Pramod W. Ingale

关键词：Inborn errors of metabolism (IEM) ; Gas chromatography/mass spectrometry (GC/MS) ; Organic acidemia ; Aminoacidopathies ; Newborn screening

刊名：Clinical Biochemistry

出版年：2017

3.Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes

作者：Kimberly A. Chapman^a ; ¹ ; Maria S. Collado^c ; ¹ ; Robert A. Figler^c ; Stephen A. Hoang^c ; Allison J. Armstrong^c ; Wanxing Cui^b ; Michael Purdy^d ; Michael B. Simmers^c ; Nada A. Yazigi^b ; Marshall L. Summar^a ; Brian R. Wamhoff^c ; ^{wamhoff@hemoshear.com" class="auth_mail" title="E-mail the corresponding author} ; Ajit Dash^c

关键词：Organic acidemia ; Propionic acidemia ; Ammonia ; Urea ; Hepatocyte ; Hemodynamic flow

刊名：Molecular Genetics and Metabolism

出版年：2016

4.Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias

作者：A.L. Colí ; n-Gonzá ; lez^a ; ^&dagger ; ; A.L. Paz-Loyola^a ; ^&dagger ; ; I. Serratos^b ; B. Seminotti^c ; ^&dagger ; ; C.A.J. Ribeiro^c ; ^&dagger ; ; G. Leipnitz^c ; D.O. Souza^c ; M. Wajner^c ; ^d ; ^{mwajner@ufrgs.br" class="auth_mail" title="E-mail the corresponding author} ; A. Santamarí ; a^a ; ^{absada@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：GA ; glutaric acid ; GA I ; glutaric acidemia type I ; GDD ; glutaryl-CoA dehydrogenase ; HEPES ; 4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid ; KA ; kynurenic acid ; KP ; kynurenine pathway ; l-NAME ; l-nitro-l-arginine methyl ester ; MDA ; Malondialdehyde ; MMA ; methylmalonic acid ; MMAcidemia ; methylmalonic acidemia ; MTT ; 3-(4 ; 5-dimethylthiazol-2-yl)-2 ; 5-diphenyltetrazolium bromide ; NMDA ; N-methyl-d-aspartate ; NMDAr ; NMDA receptors ; NOS ; nitric oxide synthase ; OA ; organic acidemias ; PA ; propionic acid

刊名：Neuroscience

出版年：2015

5.Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases

作者：Kenji Yamada^a ; ^{k-yamada@med.shimane-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Hironori Kobayashi^a ; Ryosuke Bo^a ; Tomoo Takahashi^a ; Jamiyan Purevsuren^a ; Yuki Hasegawa^a ; Takeshi Taketani^a ; Seiji Fukuda^a ; Takuya Ohkubo^b ; Takanori Yokota^b ; Mutsufusa Watanabe^c ; Taiji Tsunemi^d ; Hidehiro Mizusawa^e ; Hiroshi Takuma^f ; Ayako Shioya^f ; Akiko Ishii^f ; Akira Tamaoka^f ; Yosuke Shigematsu^g ; Hideo Sugie^h ; Seiji Yamaguchi^a

关键词：Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia type II) ; Adult onset ; Myopathy ; Serum acylcarnitine ; Immunoblotting ; In vitro probe acylcarnitine assay

刊名：Brain and Development

出版年：2016

6.Kinetic and molecular orbital analyses of dicarboxylic acylcarnitine methylesterification show that derivatization may affect the screening of newborns by tandem mass spectrometry

作者：Yasuhiro Maeda^a ; ^{maeda@phar.nagoya-cu.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Yoko Nakajima^b ; Kana Gotoh^a ; Yuji Hotta^a ; Tomoya Kataoka^c ; Naruji Sugiyama^d ; Naohiro Shirai^a ; Tetsuya Ito^b ; Kazunori Kimura^a ; ^c

关键词：MS/MS ; tandem mass spectrometry ; SPE ; solid phase extraction ; MRM ; multiple reaction monitoring

刊名：Bioorganic & Medicinal Chemistry Letters

出版年：2016

7.Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

作者：Paula J. Waters^a ; ¹ ; ^{Paula.J.Waters@USherbrooke.ca} ; Fanny Thuriot^a ; ¹ ; ^{Fanny.Thuriot@USherbrooke.ca} ; Joe T.R. Clarke^a ; ¹ ; ^{joeclarke@sympatico.ca} ; Serge Gravel^a ; ¹ ; ^{Serge.Gravel@USherbrooke.ca} ; David Watkins^b ; ² ; ^{david.watkins@mcgill.ca} ; David S. Rosenblatt^b ; ² ; ^{david.rosenblatt@mcgill.ca} ; Sé ; bastien Lé ; vesque^a ; ¹ ; ^{Sebastien.A.Levesque@USherbrooke.ca}

关键词：Methylmalonyl-coA epimerase ; Methylmalonyl-coA racemase ; Methylmalonic aciduria ; Propionic aciduria ; Complementation analysis ; Intronic mutation ; Splicing mutation

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

8.The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes

作者：A.L. Colí ; n-Gonzá ; lez^a ; ^&dagger ; ; A.L. Paz-Loyola^a ; ^&dagger ; ; I.N. Serratos^a ; ^b ; B. Seminotti^c ; C.A.J. Ribeiro^c ; G. Leipnitz^c ; D.O. Souza^c ; M. Wajner^c ; ^d ; ^{mwajner@ufrgs.br" class="auth_mail" title="E-mail the corresponding author} ; A. Santamarí ; a^a ; ^{absada@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：3-OHGA ; 3-hydroxyglutaric acid ; ANOVA ; analysis of variance ; CB1 ; type-1 cannabinoid receptor ; CB2 ; type-2 cannabinoid receptor ; CBs ; cannabinoids ; DCF ; 2&prime ; 7&prime ; -dichlorofluorescein ; DCFH-DA ; 2&prime ; 7&prime ; -dichlorofluorescein diacetate ; ECS ; endocannabinoid system ; GA I ; glutaric academia type I ; GA ; glutaric acid ; GSH ; reduced glutathione ; HEPES ; 4-(2-hydroxyethyl)piperazine-1-ethanesulfonic acid ; MMAcidemia ; methylmalonic acidemia ; MD ; metabolic disorders ; MDA ; malondialdehyde ; MK

刊名：Neuroscience

出版年：2015

9.Advances in the metabolic profiling of acidic compounds in children’s urines achieved by comprehensive two-dimensional gas chromatography

作者：N. Pé ; rez Vasquez^a ; ^b ; M. Crosnier de bellaistre-Bonose^a ; ^{myriam.bonose@u-psud.fr" class="auth_mail" title="E-mail the corresponding author} ; N. Lé ; vê ; que^a ; E. Thioulouse^c ; D. Doummar^c ; T. Billette de Villemeur^c ; D. Rodriguez^c ; R. Couderc^c ; S. Robin^b ; C. Courderot-Masuyer^b ; F. Moussa^a ; ^c

关键词：Two-dimensional gas chromatography ; Organic acids ; Urine ; Metabolism ; Biomarkers ; Quinolinic acid

刊名：Journal of Chromatography B, Analytical Technologies in the Biomedical and Life Sciences

出版年：2015

10.Kupffer cells modulate hepatic fatty acid oxidation during infection with PR8 influenza

作者：Tatyana N. Tarasenko^a ; Larry N. Singh^b ; Milani Chatterji-Len^a ; Patricia M. Zerfas^c ; Kristina Cusmano-Ozog^d ; Peter J. McGuire^a ; ^{peter.mcguire@nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：PR8 ; influenza A/PR/8 ; IEM ; inborn errors of metabolism ; OA ; organic acidemia ; UCD ; urea cycle disorder ; pMD ; primary mitochondrial disease ; TCID ; tissue culture infective dose ; MDCK ; Madin&ndash ; Darby canine kidney epithelial cells ; NS1 ; influenza non-structural protein ; CPT2 ; carnitine palmitoyl transferase 2 ; CACT ; carnitine acylcarnitine translocase ; Acadvl ; very long chain acyl CoA dehydrogenase ; Acadl ; long chain acyl CoA dehydrogenase ; Hadha ; hydroxy acyl CoA dehydrogenase ; Etfa ; electron

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

出版年：2015

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