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在“Elsevier电子期刊”中，命中：66条，耗时：小于0.01 秒

在所有数据库中总计命中：89条

1.Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay

作者：Kenji Yamada^a ; ^{k-yamada@med.shimane-u.ac.jp} ; Hironori Kobayashi^a ; Ryosuke Bo^a ; ^b ; Jamiyan Purevsuren^a ; Yuichi Mushimoto^a ; Tomoo Takahashi^a ; Yuki Hasegawa^a ; Takeshi Taketani^a ; Seiji Fukuda^a ; Seiji Yamaguchi^a

关键词：Bezafibrate ; Glutaric acidemia type II ; Multiple acyl-CoA dehydrogenase deficiency ; In vitro probe assay ; Fatty acid oxidation disorders

刊名：Brain and Development

出版年：2017

2.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

3.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

4.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

5.A role of astrocytes in mediating postnatal neurodegeneration in Glutaric acidemia-type 1

作者：Silvia Olivera-Bravo^a ; Luis Barbeito^b ; ^{barbeito@pasteur.edu.uy" class="auth_mail" title="E-mail the corresponding author}

关键词：Astrocyte dysfunction ; Glutaric acidemia I ; Neuronal death ; Defective myelination

刊名：FEBS Letters

出版年：2015

6.Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt

作者：Osama K. Zaki^a ; ^{ozaki@medical-genetics.net" class="auth_mail} ; ^{okzaki@gmail.com" class="auth_mail} ; Heba Salah Elabd^b ; Shaimaa Gad Ragheb^b ; Dina A. Ghoraba^a ; Ahmed Essam Elghawaby^a

关键词：Glutaric acidemia type 1 ; Inborn errors of metabolism ; Egypt ; Genetics ; Consanguinity ; Newborn screening

刊名：Egyptian Journal of Medical Human Genetics

出版年：April, 2014

7.Genetic profiling of Indian patients with glutaric acidemia type I

作者：S. Muntaj^a ; ; T.P. Kruthika-Vinod^a ; A.B. Vedamurthy^b

刊名：Journal of the Neurological Sciences

出版年：2015

8.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

9.Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling

作者：Dina A. Ghoraba ; Magdy M. Mohamed ; Osama K. Zaki

关键词：GC/MS ; gas chromatography/mass spectrometry ; LC&ndash ; MS/MS ; liquid chromatography mass spectrometry/mass spectrometry ; HPLC ; high performance liquid chromatography ; MSUD ; maple syrup urine disease ; PA ; propionic acidemia ; IVA ; isovaleric acidemia ; CoA ; coenzyme A ; GA-1 ; glutaric acidemia type I ; BKT ; 尾-ketothiolase deficiency ; MMA ; methylmalonic aciduria ; PGA ; pyroglutamic aciduria ; UCD ; urea cycle defect ; NKHG ; non-ketotic hyperglycinemia ; CD ; creatine deficiency ; Q.MTD ; query mitochondrial d

刊名：Egyptian Journal of Medical Human Genetics

出版年：January, 2014

10.Glutaric acidemia Type 1: Outcomes before and after expanded newborn screening

作者：Krista Viau ; Sharon L. Ernst ; Rena J. Vanzo ; Lorenzo D. Botto ; Marzia Pasquali ; Nicola Longo

关键词：Glutaric acidemia type 1 ; Newborn screening ; GCDH genetic/molecular analysis

刊名：Molecular Genetics and Metabolism

出版年：2012

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