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Elsevier电子期刊(60)

在“Elsevier电子期刊”中，命中：60条，耗时：0.0809583 秒

在所有数据库中总计命中：82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.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

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.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.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

9.Reduction of Na⁺, K⁺-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: A possible mechanism for brain injury in glutaric aciduria type I

作者：Alexandre Umpierrez Amaral^a ; Bianca Seminotti^a ; Cristiane Cecatto^a ; Carolina Gonç ; alves Fernandes^a ; Estela Natacha Brandt Busanello^a ; Â ; ngela Zanatta^a ; Luiza Wilges Kist^b ; Maurí ; cio Reis Bogo^b ; Diogo Onofre Gomes de Souza^a ; Michael Woontner^c ; Stephen Goodman^c ; David M. Koeller^d ; Moacir Wajner^a ; ^e ; ^{mwajner@ufrgs.br}

关键词：CK ; creatine kinase ; DCIP ; dichloroindophenol ; DNP ; dinitrophenol ; EDTA ; ethylenediaminetetracetic acid ; EGTA ; ethylene glycol-bis(2-aminoethylether)-NN ; N&prime ; N&prime ; -tetraacetic acid ; GA ; glutaric acid ; GA I ; glutaric acidemia type I ; GCDH ; glutaryl

刊名：Molecular Genetics and Metabolism

出版年：2012

10.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

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