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：Akio Kihara ^{kihara@pharm.hokudai.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：ABC ; ATP-binding cassette ; acyl-Cer ; acylceramide ; ACS ; acyl-CoA synthetase ; ACSBG ; acyl-CoA synthetase bubblegum ; ACSF ; acyl-CoA synthetase family ; ACSL ; acyl-CoA synthetase long-chain ; ACSM ; acyl-CoA synthetase medium-chain ; ACSS ; acyl-CoA synthetase short-chain ; ACSVL ; acyl-CoA synthetase very long-chain ; ALDH ; aldehyde dehydrogenase ; ARCI ; autosomal recessive congenital ichthyosis ; BAT ; brown adipose tissue ; CE ; cornified envelope ; Cer ; ceramide ; Cer (Sph) ; ceramide containing sphingosine ; C

刊名：Progress in Lipid Research

出版年：2016

作者：Yiqian Chen ; Margaret G. Gall ; Hui Zhang ; Fiona M. Keane ; Geoffrey W. McCaughan ; Denise M.T. Yu¹ ; Mark D. Gorrell ; ^{m.gorrell@centenary.usyd.edu.au" class="auth_mail" title="E-mail the corresponding author}

关键词：ACADM ; medium chain acyl-CoA dehydrogenase ; ACADVL ; very long chain acyl-CoA dehydrogenase ; ACC ; acetyl-coenzyme A carboxylase alpha ; ACSL1 ; acyl-CoA synthetase long-chain family member 1 ; ADIPOR2 ; adiponectin receptor 2 ; Akt ; protein kinase B ; AK2 ; Adenylate kinase 2 ; AMPK ; AMP-activated protein kinase ; CE ; cytoplasmic extract ; ChREBP ; carbohydrate regulatory element binding protein ; CPT-1a ; carnitine palmitoyltransferase 1a ; CXCL10 ; C-X-C motif chemokine 10 ; DGAT1 ; diacylglycerol acyltransfera

刊名：Experimental Cell Research

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：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：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：Jerry Vockley^a ; ^b ; ^{gerard.vockley@chp.edu" class="auth_mail" title="E-mail the corresponding author} ; Deborah Marsden^c ; Elizabeth McCracken^a ; Stephanie DeWard^a ; Amanda Barone^a ; Kristen Hsu^c ; Emil Kakkis^c

关键词：CACT ; carnitine acylcarnitine translocase ; CM ; cardiomyopathy ; CRF ; case report forms ; ECHO ; echocardiography ; ER ; emergency room ; LC-FAOD ; long chain fatty acid oxidation disorder ; MCT ; Medium Chain Triglyceride ; TFP ; trifunctional protein ; CK ; creatine kinase ; CPT ; carnitine palmitoyltransferase deficiencies ; ICU ; intensive care unit ; IQR ; interquartile range ; IV ; intravenous ; LCHAD ; long-chain 3-hydroxy-acyl-CoA dehydrogenase ; VLCAD ; very long chain acyl-CoA dehydrogenase

刊名：Molecular Genetics and Metabolism

出版年：2015

作者：Yun-Soo Seo^a ; ¹ ; Mi-Yae Shon^b ; ¹ ; Ryong Kong^a ; Ok-Hwa Kang^a ; Tian Zhou^a ; Do-Yeon Kim^b ; Dong-Yeul Kwon^a ; ^{sssimi@wku.ac.kr" class="auth_mail" title="E-mail the corresponding author}

关键词：Black ginseng ; Diabetes mellitus ; Insulin signaling ; Glucose tolerance ; Skeletal muscle

刊名：Journal of Ethnopharmacology

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：Xiaojun Liu^b ; Long Wu^b ; Guisheng Deng^b ; Gong Chen^b ; Nan Li^b ; Xiusheng Chu^b ; Ding Li^a ; ^{liding@mail.sysu.edu.cn}

关键词：BCAAs ; branched-chain amino acids ; BCFAs ; branched chain fatty acids ; DCPIP ; 2 ; 6-dichlorophenolindophenol ; IBD ; isobutyryl-CoA dehydrogenase ; IPTG ; isopropyl-¦Â-D-thiogalactopyranoside ; IVD ; isovaleryl-CoA dehydrogenase ; MCAD ; medium-chain acyl-CoA dehydr

刊名：Bioorganic Chemistry

出版年：2013