作者：Thomas Opladen^a ; ^{Thomas.Opladen@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author} ; Martin Lindner^a ; ^b ; ^{Martin.Lindner@kgu.de" class="auth_mail" title="E-mail the corresponding author} ; Anibh M. Das^c ; ^{Das.Anibh@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author} ; Thorsten Marquardt^d ; ^{Thorsten.Marquardt@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author} ; Aneal Khan^e ; ^{khaa@ucalgary.ca" class="auth_mail" title="E-mail the corresponding author} ; Sukru H. Emre^f ; ^{sukru.emre@yale.edu" class="auth_mail" title="E-mail the corresponding author} ; Barbara K. Burton^g ; ^{BBurton@luriechildrens.org" class="auth_mail" title="E-mail the corresponding author} ; Bruce A. Barshop^h ; ^{bbarshop@ucsd.edu" class="auth_mail" title="E-mail the corresponding author} ; Thea Bö ; hmⁱ ; ^{Thea.boehm@gmx.net" class="auth_mail" title="E-mail the corresponding author} ; Jochen Meyburg^a ; ^{Jochen.Meyburg@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author} ; Kathrin Zangerl^a ; ^{kathrin.zangerl@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sebene Mayorandan^c ; ^{Sebene.Mayorandan@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author} ; Peter Burgard^a ; ^{Peter.Burgard@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author} ; Ulrich H.N. Dü ; rrⁱ ; ^{Ulrich.Duerr@cytonet.de" class="auth_mail" title="E-mail the corresponding author} ; Bernd Rosenkranz^j ; ^{rosenkranz@sun.ac.za" class="auth_mail" title="E-mail the corresponding author} ; Jö ; rg Renneckeⁱ ; ^{Joerg.Rennecke@cytonet.de" class="auth_mail" title="E-mail the corresponding author} ; Jens Derbinskiⁱ ; ^{Jens.Derbinski@cytonet.de" class="auth_mail" title="E-mail the corresponding author} ; Marc Yudkoff^k ; ¹ ; ^{yudkoff@email.chop.edu" class="auth_mail" title="E-mail the corresponding author} ; Georg F. Hoffmann^a ; ¹ ; ^{Georg.Hoffmann@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author}

关键词：UCD ; urea cycle defect ; OTC ; ornithine carbamoyltransferase ; ASS ; argininosuccinate synthetase 1 ; CPS1 ; carbamoyl phosphate synthetase 1 ; ASL ; argininosuccinate lyase

刊名：Molecular Genetics and Metabolism

出版年：2016