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Elsevier电子期刊(6)

在“Elsevier电子期刊”中，命中：6条，耗时：0.0299869 秒

在所有数据库中总计命中：9条

1.Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

作者：Kendra J. Bjoraker ; PhD¹ ; ^&lowast ; ; Michael A. Swanson ; PhD¹ ; ^&lowast ; ; Curtis R. Coughlin II ; MS ; MBe¹ ; John Christodoulou ; MB ; BS ; PhD² ; Ee S. Tan ; MB ; BS² ; Mark Fergeson ; MD³ ; Sarah Dyack ; MD⁴ ; Ayesha Ahmad ; MD⁵ ; Marisa W. Friederich ; PhD¹ ; Elaine B. Spector ; PhD¹ ; Geralyn Creadon-Swindell ; BS¹ ; M. Antoinette Hodge ; DPsych⁶ ; Sommer Gaughan ; RD¹ ; Casey Burns ; RD¹ ; Johan L.K. Van Hove ; MD ; PhD¹ ; ^{Johan.Vanhove@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：AE ; Age equivalent ; BASC ; Behavior Assessment System for Children ; DQ ; Developmental quotient ; Mullen scales ; Mullen Scales of Early Learning ; NKH ; Nonketotic hyperglycinemia ; NMDA ; N-methyl-D-aspartate ; WPPSI ; Wechsler Preschool and Primary Scale of Intelligence

刊名：The Journal of Pediatrics

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.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

4.An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

作者：Hung-Chun Yu ; Jennifer?L. Sloan ; Gunter Scharer ; Alison Brebner ; Anita?M. Quintana ; Nathan?P. Achilly ; Irini Manoli ; Curtis?R. Coughlin II ; Elizabeth?A. Geiger ; Una Schneck ; David Watkins ; Terttu Suormala ; Johan?L.K. Van?Hove ; Brian Fowler ; Matthias?R. Baumgartner ; David?S. Rosenblatt ; Charles?P. Venditti ; Tamim?H. Shaikh

刊名：The American Journal of Human Genetics

出版年：2013

5.Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

作者：Curtis R. Coughlin II ; Ian D. Krantz ; Eric S. Schmitt ; Shulin Zhang ; Lee-Jun C. Wong ; Douglas S. Kerr ; Jaya Ganesh

关键词：Pyruvate dehydrogenase complex deficiency ; PDHA1 ; Mosaicism ; Lactic acidosis

刊名：Molecular Genetics and Metabolism

出版年：2010

6.Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry

作者：Can Ficicioglu ; Curtis R. Coughlin II ; Michael J. Bennett ; Marc Yudkoff

刊名：The Journal of Pediatrics

出版年：2010

按检索点细分(6)

作者(5)

按出版年细分(6)

2016年(2)

2015年(1)

2013年(1)

2010年(2)