作者：Kristi Bentler^a ; Shaohui Zhai^b ; Sara A. Elsbecker^c ; Georgianne L. Arnold^d ; Barbara K. Burton^e ; Jerry Vockley^d ; Cynthia A. Cameron^b ; Sally J. Hiner^b ; Mathew J. Edick^b ; Susan A. Berry^c ; ¹ ; ² ; ^{berry002@umn.edu" class="auth_mail" title="E-mail the corresponding author} ; On behalf of the Inborn Errors of Metabolism CollaborativeJanet Thomas^g ; Melinda Dodge^g ; Rani Singh^h ; Sangeetha Lakshman^h ; Katie Coakley^h ; Adrya Stembridge^h ; Alvaro Serrano Russiⁱ ; Emily Phillipsⁱ ; Barbara Burton^j ; Clare Edano^j ; Sheela Shrestha^j ; George Hoganson ; Lauren Dwyer^k ; Bryan Hainline^l ; Susan Romie^l ; Sarah Hainline^l ; Alexander Asamoah^m ; Kara Goodin^m ; Cecilia Rajakaruna^m ; Kelly Jackson^m ; Ada Hamoshⁿ ; Hilary Vernonⁿ ; Nancy Smithⁿ ; Ayesha Ahmad^o ; Sue Lipinski^o ; Gerald Feldman^p ; Susan Berry^q ; Sara Elsbecker^q ; Kristi Bentler^r ; Esperanza Font-Montgomery^s ; Dawn Peck^s ; Loren D.M. Pena^t ; Dwight D. Koeberl^t ; Yong-hui Jiang^t ; Priya S. Kishnani^t ; William Rizzo^u ; Machelle Dawson^u ; Nancy Ambrose^u ; Paul Levy^v ; David Kronn^w ; Chin-to Fong^x ; Kristin D&rsquo ; Aco^x ; Theresa Hart^x ; Richard Erbe^y ; Melissa Samons^y ; Nancy Leslie^z ; Racheal Powers^z ; Dennis Bartholomew^aa ; Melanie Goff^aa ; Sandy vanCalcar^ab ; Joyanna Hansen^ab ; Georgianne Arnold^ac ; Jerry Vockley^ac ; Cate Walsh-Vockley^ad ; William Rhead^ad ; David Dimmock^ad ; Paula Engelking^ad ; Cassie Bird^ad ; Ashley Swan^ad ; Jessica Scott Schwoerer^ae ; Sonja Henry^ae ; TaraChandra Narumanchi^af ; Marybeth Hummel^af ; Jennie Wilkins^af ; Laura Davis-Keppen^ag ; Quinn Stein^ag ; Rebecca Loman^ag ; Cynthia Cameron^ah ; Mathew J. Edick^ah ; Sally J. Hiner^ah ; Kaitlin Justice^ah ; Shaohui Zhai^ah

关键词：Medium-chain acyl-coenzyme A dehydrogenase deficiency ; MCAD ; Octanoylcarnitine ; ACADM ; Newborn screening ; Inborn error of metabolism

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Zhen Wang ; Kangsen Mai ; Wei Xu ; Yanjiao Zhang ; Yinglong Liu ; Qinghui Ai ; ^{qhai@ouc.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; ^{aiqinghui@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：SREBP-1 ; sterol regulatory element binding protein-1 ; PPARγ ; peroxisome proliferator activated receptor γ ; FAS ; fatty acid synthetase ; ACC-1 ; acetyl-coenzyme A carboxylase-1 ; SCD-1 ; stearoyl-CoA desaturase-1 ; G6PD ; glucose-6-phosphate dehydrogenase ; PPARα ; peroxisome proliferator activated receptor α ; CPT-1 ; carnitine acyl transferase-1 ; HSL ; hormone sensitive lipase ; LPL ; lipase lipoprotein lipase ; GCN2 ; general control non-derepressible kinase 2 ; ATF4 ; activating transcription factor 4 ; C/EBPβ

刊名：Aquaculture

出版年：2016

作者：Fumiko Yamamoto^a ; Kiyotaka Nakamagoe^a ; ^{nakamagoek@md.tsukuba.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Kenji Yamada^b ; Akiko Ishii^a ; Junichi Furuta^c ; Seiji Yamaguchi^b ; Akira Tamaoka^a

刊名：Journal of the Neurological Sciences

出版年：2016

作者：M. Rosa^a ; ^d ; A. Pascarella^a ; ^d ; G. Parenti^a ; S. Buono^b ; A. Romano^a ; R. Della Casa^a ; G. Andria^a ; M. Marino^c ; M.P. Riccio^c ; C. Bravaccio^a ; ^{carmela.bravaccio@unina.it}

关键词：Multiple acyl-coenzymeA dehydrogenase deficiency ; Psychomotor development ; Assessment scale of mental development Griffiths ; Riboflavin

刊名：European Journal of Paediatric Neurology

出版年：2012

作者：Graziela S. Ribas ; Carmen R. Vargas ; Moacir Wajner

关键词：LC ; l-Carnitine ; ALC ; acetyl-l-carnitine ; ATP ; adenosine triphosphate ; ROS ; reactive oxygen species ; H2O2 ; hydrogen peroxide ; GPx ; glutathione peroxidase ; CAT ; catalase ; SOD ; superoxide dismutase ; HNE ; 4-hydroxy-2-nonenal ; GSH ; reduced glutathione ; HSP ; heat shock protein ; PI3K ; phosphoinositol-3 kinase ; CNS ; central nervous system ; PLC ; propionyl-l-carnitine ; MCAD ; medium-chain acyl-coenzyme A dehydrogenase ; LCAD ; long-chain acyl-CoA dehydrogenase ; VLCAD ; very-long-chain acyl-CoA dehydrogenase

刊名：Gene

出版年：10 January, 2014

作者：Weibin Wu^a ; ¹ ; Xijun Liu^a ; ¹ ; Xiaomin Peng^a ; Ruyi Xue^b ; Lingling Ji^a ; Xizhong Shen^b ; She Chen^a ; ^{shechen@fudan.edu.cn" class="auth_mail} ; Jianxin Gu^a ; Si Zhang^a ; ^{zhangsi@fudan.edu.cn" class="auth_mail}

关键词：ACAA1a ; acetyl-CoA acyltransferase 1 ; ACADM ; acyl-coenzyme A dehydrogenase ; ACC1 ; acetyl-CoA carboxylase 1 ; Acox1 ; acyl-CoA oxidase 1 ; ALT ; alanine aminotransferase ; AST ; aspartate aminotransferase ; BAs ; bile acids ; BSEP ; bile salt export pump ; CDCA ; chenodeoxycholic acid ; CPT1a ; carnitine palmitoyltransferase 1a ; CYP7A1 ; cholesterol 7伪-hydroxylase ; CYP8B1 ; sterol 12伪-hydroxylase ; DGAT ; diacylglycerol acyltransferases ; FABP1 ; fatty acid binding protein 1 ; FABP4 ; fatty acid binding protein 4 ; FAS

刊名：Biochemical and Biophysical Research Communications

出版年：23 May 2014

作者：A.B. Lä ; mmer^a ; ^{alexandra.laemmer@uk-erlangen.de"" rel=""nofollow} ; B. Rolinski^b ; ^c ; U. Ahting^b ; D. Heuss^a

关键词：Multiple Acyl-CoA-dehydrogenase deficiency ; ETFDH mutations ; Late-onset glutaric aciduria type II

刊名：Journal of the Neurological Sciences

出版年：2011

作者：Tuba F. Eminoglu ; ^a ; ^{tubaeminoglu@yahoo.com"" rel=""nofollow} ; Leyla Tumer^a ; Ilyas Okur^a ; Fatih S. Ezgu^a ; Gursel Biberoglu^a ; Alev Hasanoglu^a

关键词：Very long-chain acyl-CoA dehydrogenase deficiency ; Sudden death ; Postmortem screening

刊名：Forensic Science International

出版年：2011

作者：Roman Yusupov ; David N. Finegold ; Edwin W. Naylor ; Inderneel Sahai ; Susan Waisbren ; Harvey L. Levy

关键词：Medium chain acyl-coenzyme A dehydrogenase deficiency ; MCADD ; Fatty acid oxidation disorder ; Newborn screening ; Sudden death

刊名：Molecular Genetics and Metabolism

出版年：2010

作者：Ema Alves^a ; ^b ; Bá ; rbara J. Henriques^a ; Joã ; o V. Rodrigues^a ; Pedro Prudê ; ncio^b ; Hugo Rocha^c ; Laura Vilarinho^c ; Rui G. Martinho^b ; ^d ; ^{rmartinho@igc.gulbenkian.pt} ; Clá ; udio M. Gomes^a ; ^{gomes@itqb.unl.pt} ;

关键词：FAO ; fatty acid ¦Â-oxidation ; MADD ; multiple acyl-CoA dehydrogenase deficiency ; ETF ; QO ; electron transfer flavoprotein ; ubiquinone oxidoreductase ; ETF ; electron transfer flavoprotein ; CoA ; coenzyme A ; MCAD ; medium chain acyl-CoA dehydrogenase ; SCAD ; short

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

出版年：2012