作者：Kenji Yamada^a ; ^{k-yamada@med.shimane-u.ac.jp} ; Hironori Kobayashi^a ; Ryosuke Bo^a ; ^b ; Jamiyan Purevsuren^a ; Yuichi Mushimoto^a ; Tomoo Takahashi^a ; Yuki Hasegawa^a ; Takeshi Taketani^a ; Seiji Fukuda^a ; Seiji Yamaguchi^a

关键词：Bezafibrate ; Glutaric acidemia type II ; Multiple acyl-CoA dehydrogenase deficiency ; In vitro probe assay ; Fatty acid oxidation disorders

刊名：Brain and Development

出版年：2017

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：Go Tajima^a ; ^b ; ^{isleofmaple@me.com} ; Keiichi Hara^a ; ^c ; ^{keiichi1973hara@yahoo.co.jp} ; Miyuki Tsumura^a ; ^{m055@hiroshima-u.ac.jp} ; Reiko Kagawa^a ; ^{ykagawa@ja2.so-net.ne.jp} ; Satoshi Okada^a ; ^{saok969@gmail.com} ; Nobuo Sakura^d ; ^{misasa_sakura@yahoo.co.jp} ; Ikue Hata^e ; ^{ikueh@u-fukui.ac.jp} ; Yosuke Shigematsu^e ; ^{yosuke@u-fukui.ac.jp} ; Masao Kobayashi^a ; ^{masak@hiroshima-u.ac.jp}

关键词：MCAD ; medium-chain acyl-CoA dehydrogenase ; FAOD ; fatty acid oxidation disorder ; MS/MS ; tandem mass spectrometry ; NBS ; newborn screening ; DBS ; dried blood specimen

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Loren D.M. Pena^a ; ^{loren.pena@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Sandra C. van Calcar^b ; Joyanna Hansen^b ; Mathew J. Edick^c ; Cate Walsh Vockley^d ; Nancy Leslie^e ; Cynthia Cameron^c ; Al-Walid Mohsen^d ; Susan A. Berry^f ; Georgianne L. Arnold^g ; Jerry Vockley^d ; for the IBEMC¹

关键词：VLCAD ; very long chain acyl-CoA dehydrogenase ; NBS ; newborn screening ; MCT ; medium chain triglycerides ; IBEM-IS ; Inborn Errors of Metabolism Information System ; RUSP ; Recommended Uniform Screening Panel ; CK ; creatine kinase ; HELLP syndrome ; hemolysis ; elevated liver enzymes ; or low platelets syndrome

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Kenji Yamada^a ; ^{k-yamada@med.shimane-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Hironori Kobayashi^a ; Ryosuke Bo^a ; Tomoo Takahashi^a ; Jamiyan Purevsuren^a ; Yuki Hasegawa^a ; Takeshi Taketani^a ; Seiji Fukuda^a ; Takuya Ohkubo^b ; Takanori Yokota^b ; Mutsufusa Watanabe^c ; Taiji Tsunemi^d ; Hidehiro Mizusawa^e ; Hiroshi Takuma^f ; Ayako Shioya^f ; Akiko Ishii^f ; Akira Tamaoka^f ; Yosuke Shigematsu^g ; Hideo Sugie^h ; Seiji Yamaguchi^a

关键词：Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia type II) ; Adult onset ; Myopathy ; Serum acylcarnitine ; Immunoblotting ; In vitro probe acylcarnitine assay

刊名：Brain and Development

出版年：2016

作者：Anders V. Edhager ; Vibeke Stenbroen ; Nadia Sukusu Nielsen ; Peter Bross ; Rikke K.J. Olsen ; Niels Gregersen ; Johan Palmfeldt ; ^{johan.palmfeldt@ki.au.dk" class="auth_mail}

关键词：AcN ; Acetonitrile ; DMEM ; Dulbecco's modified eagle medium ; FAO ; Fatty acid oxidation ; nanoLC&ndash ; MS/MS ; nanoliquid chromatography tandem mass spectrometry ; NHDF ; Normal human dermal fibroblasts ; ROS ; Reactive oxygen species ; RT-PCR ; Real time-polymerase chain reaction ; SCADD ; Short-chain acyl-CoA dehydrogenase deficiency ; SDS-PAGE ; Sodium dodecyl sulfate polyacrylamide gel electrophoresis

刊名：Molecular Genetics and Metabolism

出版年：March, 2014

作者：Sara Tucci^a ; ^b ; ¹ ; ^{sara.tucci@uniklinik-freiburg.de" class="auth_mail} ; Ulrich Flö ; gel^c ; ¹ ; Sven Hermann^d ; Marga Sturm^b ; Michael Schä ; fers^d ; Ute Spiekerkoetter^a

关键词：VLCAD-deficiency ; Dilated cardiomyopathy ; MRI ; PET ; MCT-supplementation ; Energy metabolism

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

出版年：May, 2014

作者：Shawn E. McCandless^a ; ^b ; ^{shawn.mccandless@case.edu} ; Ram Chandrasekar^c ; ^{ram.chandrasekar@odh.ohio.gov} ; Sharon Linard^c ; ^{sharon.linard@odh.ohio.gov} ; Sandra Kikano^a ; ^{sandra.kikano@case.edu} ; Lorrie Rice^a ; ^{lorrie.rice@case.edu}

关键词：Medium-chain acyl-CoA dehydrogenase deficiency ; Fatty acid oxidation disorders ; Newborn screening ; Dried blood spots

刊名：Molecular Genetics and Metabolism

出版年：2013

作者：Laila A. Selim^a ; ^b ; Sawsan Abdel-Hady Hassan^b ; ^c ; Fadia Salem^a ; ^c ; Azza Orabi^a ; ^b ; Fayza A. Hassan^b ; ^d ; Fatma El-Mougy^b ; ^d ; Iman Gamal-Eldin Mahmoud^b ; Amira El-Badawy^b ; Marian Y. Girgis^a ; ^b ; Mohamed A. Elmonem^b ; ^d ; ^{mohamed.abdelmonem@kasralainy.edu.eg" class="auth_mail} ; Dina Mehaney^b ; ^d

关键词：CPT I ; carnitine palmitoyl transferase deficiency type I ; GA I or II ; glutaric aciduria type I or II ; GC/MS ; gas chromatography mass spectrometry ; 3HMG ; 3-OH methylglutaryl CoA lyase deficiency ; IEMs ; inborn errors of metabolism ; MCAD ; medium chain acyl-CoA dehydrogenase deficiency ; MCD ; multiple carboxylase deficiency ; MMA ; methylmalonic acidemia ; MS/MS ; tandem mass spectrometry ; MSUD ; maple syrup urine disease ; NBS ; newborn screening ; NSQAP ; Newborn Screening Quality Assurance Program ; PA ; pro

刊名：Clinical Biochemistry

出版年：June 2014

作者：Kaitlyn Kormanik^a ; ^b ; Heejung Kang^a ; ^b ; Dean Cuebas^c ; Jerry Vockley^a ; ^b ; Al-Walid Mohsen^a ; ^{aam27@pitt.edu}

关键词：ACAD ; acyl-CoA dehydrogenase ; ETF ; electron transfer flavoprotein ; LCAD ; long chain acyl-CoA dehydrogenase ; MCAD ; medium chain acyl-CoA dehydrogenase ; SCAD ; short chain acyl-CoA dehydrogenase ; VLCAD ; very long chain acyl-CoA dehydrogenase

刊名：Molecular Genetics and Metabolism

出版年：2012