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Elsevier电子期刊(63)

在“Elsevier电子期刊”中，命中：63条，耗时：小于0.01 秒

在所有数据库中总计命中：113条

1.Hepatic expression of aminoadipate semialdehyde synthase is unchanged by postruminal lysine supply in lactating dairy cows

作者：H.A. Tucker^* ; M.D. Hanigan^&dagger ; ; J. Escobar^&Dagger ; ; P.H. Doane^§ ; ; S.S. Donkin^* ; ^{sdonkin@purdue.edu}

关键词：lysine ; gene expression ; postruminal infusion

刊名：Journal of Dairy Science

出版年：2017

2.A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine

作者：Tatiana Yuzyuk^a ; ^b ; ^{tatiana.n.yuzyuk@aruplab.com" class="auth_mail" title="E-mail the corresponding author} ; Aiping Liu^b ; Amanda Thomas^a ; ^b ; JoDell E. Wilson^a ; ^b ; ^c ; Irene De Biase^a ; ^b ; Nicola Longo^a ; ^b ; Marzia Pasquali^a ; ^b

关键词：PDE ; pyridoxine dependent epilepsy ; PA ; pipecolic acid ; AASA ; α-aminoadipic semialdehyde ; P6C ; piperideine-6-carboxylate ; (PLP) ; pyridoxal 5&prime ; -phosphate ; LC&ndash ; MS/MS ; liquid chromatography&ndash ; mass spectrometry ; AEA ; allysine-ethylene acetal ; (QC) ; quality controls ; MRM ; multiple reaction monitoring ; LOD ; limit of detection ; LLOQ ; lower limit of quantification

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

出版年：2016

3.Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

作者：B. Jaeger^a ; ^{b.jaeger@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; N.G. Abeling^b ; ^{n.g.abeling@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; G.S. Salomons^c ; ^{g.salomons@vumc.nl" class="auth_mail" title="E-mail the corresponding author} ; E.A. Struys^c ; ^{e.struys@vumc.nl" class="auth_mail" title="E-mail the corresponding author} ; M. Simas-Mendes^c ; ^{m.mendes@vumc.nl" class="auth_mail" title="E-mail the corresponding author} ; V.G. Geukers^d ; ^{v.g.geukers@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; B.T. Poll-The^a ; ^{b.t.pollthe@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：CSF ; cerebrospinal fluid ; PDE ; (classic) pyridoxine dependent epilepsy ; PLP ; pyridoxal-5&prime ; -phosphate ; PLP-DE ; pyridoxal-phosphate dependent epilepsy ; PNPO ; pyridox(am)ine-5&prime ; -phosphate oxidase ; α-AASA ; alpha-aminoadipic semialdehyde dehydrogenase

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

4.Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy

作者：Tatiana Yuzyuk^a ; ^b ; ^c ; ^{tatiana.n.yuzyuk@aruplab.com" class="auth_mail" title="E-mail the corresponding author} ; Amanda Thomas^a ; ^b ; Krista Viau^d ; Aiping Liu^c ; Irene De Biase^a ; ^b ; ^c ; Lorenzo D. Botto^d ; Marzia Pasquali^a ; ^b ; ^c ; ^d ; Nicola Longo^a ; ^b ; ^c ; ^d

关键词：PDE ; Pyridoxine-Dependent Epilepsy ; PA ; pipecolic acid ; AASA ; α-aminoadipic semialdehyde ; P6C ; piperideine-6-carboxylate ; UPLC&ndash ; MS/MS ; ultra-performance liquid chromatography&ndash ; mass spectrometry

刊名：Molecular Genetics and Metabolism

出版年：2016

5.A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1

作者：Muhammad Mahajnah ; MD ; PhD^a ; ^b ; ^c ; Dawn Corderio ; RN^c ; Valerie Austin ; RD^c ; Sarah Herd ; RD^c ; Carly Mutch ; OT^d ; Melissa Carter ; MD^c ; Eduard Struys ; PhD^e ; Saadet Mercimek-Mahmutoglu ; MD ; PhD^c ; ^f ; ^{saadet.mahmutoglu@sickkids.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：pyridoxine-dependent epilepsy ; lysine-restricted diet ; ALDHA71 gene ; arginine supplementation

刊名：Pediatric Neurology

出版年：2016

6.Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

作者：Clara D.M. van Karnebeek ; MD ; PhD^a ; ^b ; ^c ; ^{cvankarnebeek@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Sylvia A. Tiebout ; MD^a ; Jikkemien Niermeijer ; MD^d ; Bwee Tien Poll-The ; MD ; PhD^e ; Aisha Ghani ; BA^a ; ^c ; Curtis R. Coughlin II ; MS ; MBe^f ; Johan L.K. Van Hove ; MD ; PhD^f ; Jost Wigand Richter ; MD^g ; ^h ; Hans Juergen Christen ; MD ; PhD^g ; ^h ; Renata Gallagher ; MD ; PhDⁱ ; Hans Hartmann ; MD^j ; Sylvia Stockler-Ipsiroglu ; MD ; PhD^a ; ^c ; ^{sstockler@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：metabolic epilepsy ; neonatal encephalopathy ; seizures ; B6 vitamer ; lysine catabolism ; treatment

刊名：Pediatric Neurology

出版年：2016

7.Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases

作者：Isaac Ferrer-L贸pez ; Pedro Ruiz-Sala ; Bego帽a Merinero ; Celia P茅rez-Cerd谩 ; Magdalena Ugarte

关键词：Alpha-aminoadipic semialdehyde ; Pyridoxine-dependent epilepsy ; Antiquitin ; Molybdenum cofactor deficiency ; Isolated sulphite oxidase deficiency

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

出版年：1 January, 2014

8.Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome

作者：Curtis R. Coughlin II^a ; Clara D.M. van Karnebeek^b ; Walla Al-Hertani^c ; ¹ ; Andrew Y. Shuen^c ; ² ; Sravan Jaggumantri^b ; Rhona M. Jack^d ; Sommer Gaughan^a ; Casey Burns^a ; David M. Mirsky^e ; Renata C. Gallagher^a ; ³ ; Johan L.K. Van Hove^a ; ^{Johan.Vanhove@childrenscolorado.org" class="auth_mail" title="E-mail the corresponding author}

关键词：5HIAA ; 5-hydroxyindolacetic acid ; 伪-AASA ; 伪-aminoadipic semialdehyde ; ABAS II ; Adaptive Behavioral Assessment System-II ; AIMS ; Alberta Infant Motor Score ; CSF ; cerebral spinal fluid ; DOL ; days of life ; EEG ; electroencephalography ; FMOC ; fluorenylmethoxycarbonyl ; GA I ; glutaric aciduria type I ; HVA ; homovanilic acid ; P6C ; 螖1-piperideine-6-carboxylate ; PDE ; pyridoxine dependent epilepsy ; PLP ; pyridoxal 5&prime ; -phosphate

刊名：Molecular Genetics and Metabolism

出版年：2015

9.Effect of different temperature-time combinations on lipid and protein oxidation of sous-vide cooked lamb loins

作者：Mar Roldan ; Teresa Antequera ; Monica Armenteros ; Jorge Ruiz

关键词：Sous-vide cooking ; Lamb meat ; Oxidation ; Conjugated dienes ; TBARS ; Protein carbonyls ; 伪-Aminoadipic and 纬-glutamic semialdehydes

刊名：Food Chemistry

出版年：15 April, 2014

10.Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

作者：Marion B. Coulter-Mackie^a ; ^b ; ^{marioncm@mail.ubc.ca" class="auth_mail} ; Sylvia Tiebout^a ; ¹ ; ^{sylviatiebout@gmail.com" class="auth_mail} ; Clara van Karnebeek^a ; ^c ; ^{cvankarnebeek@cw.bc.ca" class="auth_mail} ; Sylvia Stockler^a ; ^{sstockler@cw.bc.ca" class="auth_mail}

关键词：AASA ; 伪-aminoadipic semialdehyde ; ATQ ; antiquitin ; HGMD ; Human Genome Mutation Database ; IPTG ; isoproplythiogalactoside ; P6C ; 螖1-piperideine-6-carboxlylate ; PDB ; Protein Data Base ; PDE ; pyridoxine dependent epilepsy ; PLP ; pyridoxal phosphate ; SDS-PAGE ; SDS polyacrylamide gel electrophoresis

刊名：Molecular Genetics and Metabolism

出版年：April, 2014

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