作者：Gabriella Allegri^a ; Sereina Deplazes^a ; Hiu Man Grisch-Chan^a ; Dé ; borah Mathis^b ; Ralph Fingerhut^a ; ^c ; Johannes Hä ; berle^a ; ^d ; Beat Thö ; ny^a ; ^d ; ^{beat.thony@kispi.uzh.ch}

关键词：OTC ; ornithine transcarbamylase ; GC&ndash ; MS ; gas chromatography coupled to mass spectrometry ; DBS ; dried blood spots ; UCD ; urea cycle defects ; IS ; internal standard ; adeno-associated virus 2/serotype 8 ; AAV2/8

刊名：Clinica Chimica Acta

出版年：2017

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

作者：Camille Sureau¹ ; ^{csureau@ints.fr" class="auth_mail" title="E-mail the corresponding author} ; Francesco Negro² ; ³ ; ^{Francesco.Negro@hcuge.ch" class="auth_mail" title="E-mail the corresponding author}

关键词：HDV ; hepatitis delta virus ; RNP ; ribonucleoprotein ; HBV ; hepatitis B virus ; HDAg ; hepatitis delta antigen ; RdRp ; RNA-dependent RNA polymerase ; ADAR ; adenosine deaminase acting on RNA ; ORF ; open reading frame ; S-HDAg ; small-HDAg ; L-HDAg ; large-HDAg ; DIPA ; delta-interacting protein A ; NES ; nuclear export signal ; SVP ; subviral particle ; HSPG ; heparan sulfate proteoglycan ; AGL ; antigenic loop ; NTCP ; sodium taurocholate cotransporting polypeptide ; HCC ; hepatocellular carcinoma

刊名：Journal of Hepatology

出版年：2016

作者：Chaeyoun Oh^a ; Sanghoon Lee^b ; ^{4hooni@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jeong-Meen Seo^b ; Suk-Koo Lee^b

关键词：Ultrasound-guided ; Neonate ; Internal jugular vein ; Percutaneous ; Seldinger ; Central venous access

刊名：Journal of Pediatric Surgery

出版年：2016

作者：Phillip L. Pearl ; MD^* ; ^{Phillip.Pearl@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author}

刊名：Seminars in Pediatric Neurology

出版年：2016

作者：Vanessa Villegas-Ruiz^a ; Felix J. Campos-Garcia^b ; Silvina Contreras-Capetillo^c ; Claudia M. Moreno-Graciano^b ; Felipe A. Maldonado-Solis^b ; Mario A. Maldonado-Solis^b ; Juan C. Zenteno^a ; ^d ; ^{jczenteno@institutodeoftalmologia.org" class="auth_mail" title="E-mail the corresponding author}

关键词：Hyperargininemia ; ARG1 ; Splicing mutation ; Urea cycle disorders

刊名：Clinical Biochemistry

出版年：2015

作者：Renata C. Gallagher ; MD ; PhD¹ ; ^&lowast ; ; ^{Renata.gallagher@childrenscolorado.org" class="auth_mail} ; Christina Lam ; MD² ; ^&lowast ; ; ^&dagger ; ; Derek Wong ; MD² ; Stephen Cederbaum ; MD² ; ³ ; Ronald J. Sokol ; MD⁴

关键词：ALF ; Acute liver failure ; ALT ; Alanine aminotransferase ; AST ; Aspartate aminotransferase ; HCC ; Hepatocellular carcinoma ; INR ; International normalized ratio ; NIH ; National Institutes of Health ; OTC ; Ornithine transcarbamylase ; OTCD ; Ornithine transcarbamylase deficiency ; PT ; Prothrombin time ; PTT ; Partial thromboplastin time ; UCD ; Urea cycle defect

刊名：The Journal of Pediatrics

出版年：April, 2014

作者：I.G. Mahmoud ; M.A. Moneem ; D.A. Mehany

刊名：European Journal of Paediatric Neurology

出版年：2015

作者：Joy Yaplito-Lee^a ; ^{joy.yaplito-lee@vcgs.org.au} ; Chung-Wo Chow^b ; ^c ; Avihu Boneh^a ; ^c

关键词：Histopathology ; Liver ; Urea cycle disorders

刊名：Molecular Genetics and Metabolism

出版年：2013

作者：Dina A. Ghoraba ; Magdy M. Mohamed ; Osama K. Zaki

关键词：GC/MS ; gas chromatography/mass spectrometry ; LC&ndash ; MS/MS ; liquid chromatography mass spectrometry/mass spectrometry ; HPLC ; high performance liquid chromatography ; MSUD ; maple syrup urine disease ; PA ; propionic acidemia ; IVA ; isovaleric acidemia ; CoA ; coenzyme A ; GA-1 ; glutaric acidemia type I ; BKT ; 尾-ketothiolase deficiency ; MMA ; methylmalonic aciduria ; PGA ; pyroglutamic aciduria ; UCD ; urea cycle defect ; NKHG ; non-ketotic hyperglycinemia ; CD ; creatine deficiency ; Q.MTD ; query mitochondrial d

刊名：Egyptian Journal of Medical Human Genetics

出版年：January, 2014