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Elsevier电子期刊(19)

在“Elsevier电子期刊”中，命中：19条，耗时：0.0449779 秒

在所有数据库中总计命中：25条

1.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

2.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

3.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

4.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

5.Amenable Treatable Severe Pediatric Epilepsies

作者：Phillip L. Pearl ; MD^* ; ^{Phillip.Pearl@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author}

刊名：Seminars in Pediatric Neurology

出版年：2016

6.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

7.Attention-deficit hyperactivity disorder (ADHD) as a pyridoxine-dependent condition: Urinary diagnostic biomarkers

作者：S. Dolina ; D. Margalit ; S. Malitsky ; A. Rabinkov

刊名：Medical Hypotheses

出版年：January, 2014

8.Epilepsy as a pyridoxine-dependent condition: Quantified urinary biomarkers for status evaluation and monitoring antiepileptic treatment

作者：Svetlana Dolina ; Dov Margalit ; Sergey Malitsky ; Eugeny Pressman ; Aharon Rabinkov

关键词：PDE ; pyridoxine-dependent epilepsy ; PLP ; pyridoxal-5-phosphate ; AED ; antiepileptic drug(s) ; GAD ; glutamic acid decarboxylase ; TRP ; tryptophan ; KYN ; kynurenine ; IDO ; indoleamine 2 ; 3-dioxygenase ; 3-HOKYN ; 3-hydroxykynurenine ; 3-HOAA ; 3-hydroxyanthranilic ac

刊名：Medical Hypotheses

出版年：2012

9.Vascular function and risk factors in children with epilepsy: Associations with sodium valproate and carbamazepine

作者：Ngaire Keenan ; Lynette G. Sadlier ; Esko Wiltshire ; ^{esko.wiltshire@otago.ac.nz" class="auth_mail}

关键词：AED ; anti-epileptic drug ; BMI ; body mass index ; CBZc ; arbamazepine ; CCAc ; ommon carotid artery ; ECGe ; lectrocardiogram ; EDTA ; ethylene-diamine-tetra-acetic acid ; FMD ; flow mediated dilatation ; GTNg ; lyceryl-trinitrate ; IMT ; intima media thickness ; LDLl ; ow density lipoprotein ; PLP ; pyridoxal-5-phosphate ; tHcy ; total plasma homocyst(e)ine ; VPA ; sodium valproate

刊名：Epilepsy Research

出版年：August 2014

10.Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

作者：Marion B. Coulter-Mackie ; Ailin Li ; Qun Lian ; Eduard Struys ; Sylvia Stockler ; Paula J. Waters

关键词：AASA ; ¦Á-aminoadipic semialdehyde ; ATQ ; antiquitin ; HGMD ; Human Genome Mutation Database ; IPTG ; isopropylthiogalactoside ; P6C ; ¦¤1-piperideine 6-carboxylate ; PDE ; pyridoxine dependent epilepsy ; PLP ; pyridoxal phosphate

刊名：Molecular Genetics and Metabolism

出版年：2012

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