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Wiley电子期刊(4)	NATURE电子期刊(1)	ACS电子期刊(1)
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在“Elsevier电子期刊”中，命中：116条，耗时：小于0.01 秒

在所有数据库中总计命中：215条

1.Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features

作者：Mary Anne D. Chiong ; MD ; MSc^a ; ^{mdchiong1@up.edu.ph} ; Marilyn A. Tan^b ; Cynthia P. Cordero^c ; Esphie Grace D. Fodra^a ; Judy S. Manliguis^a ; Cristine P. Lopez^a ; Leslie Michelle M. Dalmacio^d

关键词：MSUD ; maple syrup urine disease ; BCAA ; branched chain amino acids ; LNAA ; large neutral amino acids ; BCKAD ; branched chain keto acid dehydrogenase

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

2.l-Carnitine supplementation decreases DNA damage in treated MSUD patients

作者：Caroline Paula Mescka^c ; ^{carolmescka@yahoo.com.br" class="auth_mail" title="E-mail the corresponding author} ; Gilian Guerreiro^a ; Tatiane Hammerschmidt^a ; Jé ; ssica Faverzani^a ; Daniella de Moura Coelho^b ; Vanusa Mandredini^e ; Carlos Alberto Yasin Wayhs^d ; Moacir Wajner^b ; ^c ; Carlos Severo Dutra-Filho^c ; Carmen Regla Vargas^a ; ^b ; ^c ; ^d

关键词：MSUD ; maple syrup urine disease ; BCAAs ; branched-chain amino acids ; l-car ; l-carnitine ; DI ; damage index ; MDA ; malondialdehyde ; BCKDH ; branched-chain α-keto acid dehydrogenase ; BCKA ; branched-chain α-keto acids ; KIC ; α-ketoisocaproate ; Leu ; leucine ; Ile ; isoleucine ; Val ; valine

刊名：Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

出版年：2015

3.Remotely Designed Appropriate Technology for Emergency Disaster Response in Nepal

作者：Aaron Brown ; ^{abrow118@msudenver.edu" class="auth_mail" title="E-mail the corresponding author} ; A. Michael Bauer ; ^{abauer13@msudenver.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：emergency relief ; disaster response ; sustainability ; sustainable community development ; poverty alleviation ; appropriate technology ; multi-criteria decision analysis

刊名：Procedia Engineering

出版年：2016

4.Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis‿

作者：Maryam Abiri^a ; ^b ; Razieh Karamzadeh^c ; ^d ; Morteza Karimipoor^b ; Shirin Ghadami^b ; Mohammad Reza Alaei^e ; Samira Dabagh Bagheri^f ; Hamideh Bagherian^f ; Aria Setoodeh^g ; Mohammad Reza Noori-Daloii^a ; Sirous Zeinali^b ; ^f ; ^{zeinali@kawsar.ir" class="auth_mail" title="E-mail the corresponding author}

关键词：MSUD ; BCKDHA gene ; Iran ; Mutation analysis

刊名：Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

出版年：2016

5.Baicalein reverts L-valine-induced persistent sodium current up-modulation in primary cortical neurons

作者：Silvia Caioli^a ; ¹ ; Elena Candelotti^b ; ¹ ; Jens Z. Pedersen^c ; Luana Saba^d ; Alessia Antonini^d ; Sandra Incerpi^b ; Cristina Zona^a ; ^d ; ^{zona@uniroma2.it" class="auth_mail" title="E-mail the corresponding author}

关键词：BCAAs ; branched-chain amino acids ; ROS ; reactive oxygen species ; MSUD ; maple syrup urine disease ; ALS ; amyotrophic lateral sclerosis ; CNS ; central nervous system

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2016

6.Metabolic Diet App Suite for inborn errors of amino acid metabolism

作者：Gloria Ho^a ; Keiko Ueda^a ; Roderick F.A. Houben^c ; Jeff Joa^c ; Alette Giezen^a ; Barbara Cheng^a ; Clara D.M. van Karnebeek^a ; ^b ; ^{cvankarnebeek@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：DHT ; digital health technology ; GMDI ; Genetic Metabolic Dietitians International ; IEMs ; inborn errors of metabolism ; Leu ; leucine ; Lys ; lysine ; MSUD ; maple syrup urine disease ; MNT ; metabolic nutrition therapy ; Phe ; phenylalanine ; PKU ; phenylketonuria ; PDE ; pyridoxine dependent epilepsy ; NBS ; newborn screening

刊名：Molecular Genetics and Metabolism

出版年：2016

7.A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

作者：Graham B. Sinclair^a ; ^c ; ^d ; ^e ; ^{gsinclair@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Clara D.M. van Karnebeek^b ; ^c ; ^d ; ^e ; ^f ; Manuel Ester^a ; ^d ; Frances Boyd^a ; ^d ; Tanya Nelson^a ; ^d ; ^e ; Sylvia Stockler-Ipsiroglu^b ; ^c ; ^d ; ^e ; Hilary Vallance^a ; ^c ; ^d ; ^e

关键词：GAMT ; guanidinoacetate methyltransferase ; BC ; British Columbia ; GAA ; guanidinoacetate ; LC-MS/MS ; liquid chromatography tandem mass spectrometry ; MSUD ; maple syrup urine disease ; AGAT ; arginine ; glycine amidinotransferase ; ddH20 ; distilled deionized water ; ACN ; acetonitrile ; ACMG ; American college of medical genetics ; Human gene ; GAMT (HGNC ; 416) ; guanidinoacetate N-methyltransferase ; Human gene ; SLC6A8 (HGNC ; 11055) ; solute carrier family 6 (neurotransmitter transporter) ; member 8

刊名：Molecular Genetics and Metabolism

出版年：2016

8.Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach

关键词：ACMG ; American College of Medical Genetics ; AGREE II ; Appraisal of Guidelines for Research and Evaluation ; BH4 ; tetrahydrobiopterin ; BMD ; bone mineral disease ; DRI ; dietary reference intake ; DXA ; dual x-ray absorptiometry ; EF ; executive function ; FFM ; fat-free mass ; GMDI ; Genetic Metabolic Dietitians International ; IMD ; inherited metabolic disorder ; LNAA ; large neutral amino acid ; MeSH ; medical subject heading ; MPKU ; maternal PKU syndrome ; MRI ; magnetic resonance imaging ; MSUD ; Maple Syrup Urine

刊名：Molecular Genetics and Metabolism

出版年：2016

9.Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy

作者：Jia-Woei Hou^a ; ^b ; ^{hou76@cgh.org.tw" class="auth_mail" title="E-mail the corresponding author}

关键词：acrodermatitis enteropathica ; DBT gene ; maple syrup urine disease ; myelopathy ; zinc deficiency

刊名：Pediatrics & Neonatology

出版年：2016

作者：Flavia Feier^a ; ^b ; Ida Vanessa D. Schwartz^c ; ^d ; Abigail R. Benkert^e ; Joao Seda Neto^f ; Irene Miura^f ; Paulo Chapchap^f ; Eduardo Antunes da Fonseca^f ; Sandra Vieira^g ; ^h ; Maria Lú ; cia Zanotelli^h ; Filippo Pinto e Vairo^c ; Jose Simon Camelo Jrⁱ ; Ana Vitoria Barban Marguttiⁱ ; George V. Mazariegos^j ; Erik G. Puffenberger^e ; ^k ; Kevin A. Strauss^e ; ^k ; ^l ; ^{kstrauss@clinicforspecialchildren.org" class="auth_mail" title="E-mail the corresponding author}

关键词：Maple syrup urine disease ; Branched chain ketoacid dehydrogenase ; Living related donor liver transplantation ; Domino transplantation

刊名：Molecular Genetics and Metabolism

出版年：2016

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