作者：Yair Anikster¹ ; ² ; ³ ; ²⁴ ; ^{yair.anikster@sheba.health.gov.il} ; Tobias B. Haack⁴ ; ⁵ ; ²⁴ ; Thierry Vilboux⁶ ; ⁷ ; ²⁴ ; Ben Pode-Shakked¹ ; ² ; ⁸ ; ²⁴ ; Beat Thö ; ny⁹ ; ²⁴ ; Nan Shen¹⁰ ; Virginia Guarani¹¹ ; Thomas Meissner¹² ; Ertan Mayatepek¹² ; Friedrich K. Trefz¹⁰ ; Dina Marek-Yagel¹ ; ² ; ³ ; Aurora Martinez¹³ ; Edward L. Huttlin¹¹ ; Joao A. Paulo¹¹ ; Riccardo Berutti⁴ ; ⁵ ; Jean-Franç ; ois Benoist¹⁴ ; Apolline Imbard¹⁴ ; Imen Dorboz¹⁵ ; Gali Heimer² ; ⁸ ; ¹⁶ ; Yuval Landau¹ ; ² ; Limor Ziv-Strasser¹⁷ ; May Christine V. Malicdan⁶ ; ⁷ ; ¹⁸ ; Corinne Gemperle-Britschgi⁹ ; Kirsten Cremer¹⁹ ; Hartmut Engels¹⁹ ; David Meili⁹ ; Irene Keller²⁰ ; ²¹ ; Ré ; my Bruggmann²⁰ ; Tim M. Strom⁴ ; ⁵ ; Thomas Meitinger⁴ ; ⁵ ; James C. Mullikin²² ; Gerard Schwartz¹ ; ² ; Bruria Ben-Zeev² ; ¹⁶ ; William A. Gahl¹⁸ ; J. Wade Harper¹¹ ; Nenad Blau¹⁰ ; Georg F. Hoffmann¹⁰ ; Holger Prokisch⁴ ; ⁵ ; ²⁴ ; Thomas Opladen¹⁰ ; ²⁴ ; Manuel Schiff¹⁵ ; ²³ ; ²⁴ ; ^{manuel.schiff@aphp.fr}

关键词：DNAJC12 ; hyperphenylalaninemia ; dystonia ; neurotransmitter deficiency ; phenylketonuria ; tetrahydrobiopterin ; BH4 ; newborn screening

刊名：The American Journal of Human Genetics

出版年：2017

作者：Nan Shen^a ; Caroline Heintz^b ; Christian Thiel^a ; Jü ; rgen G. Okun^a ; Georg F. Hoffmann^a ; Nenad Blau^a ; ^{nenad.blau@med.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author}

关键词：Tetrahydrobiopterin ; Phenylketonuria ; PKU ; Hyperphenylalaninemia

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Kathryn M. Camp^a ; ¹ ; ² ; ^{campkm@od.nih.gov" class="auth_mail} ; Melissa A. Parisi^b ; ¹ ; ^{parisima@mail.nih.gov" class="auth_mail} ; Phyllis B. Acosta^c ; ^{pja1933@gmail.com" class="auth_mail} ; Gerard T. Berry^d ; ^{gerard.berry@childrens.harvard.edu" class="auth_mail} ; Deborah A. Bilder^e ; ^{deborah.bilder@hsc.utah.edu" class="auth_mail} ; Nenad Blau^f ; ^g ; ^{nenad.blau@med.uni-heidelberg.de" class="auth_mail} ; Olaf A. Bodamer^h ; ^{obodamer@med.miami.edu" class="auth_mail} ; Jeffrey P. Broscoⁱ ; ^{jbrosco@med.miami.edu" class="auth_mail} ; Christine S. Brown^j ; ^{christine.brown@npkua.org" class="auth_mail} ; Alberto B. Burlina^k ; ^{alberto.burlina@unipd.it" class="auth_mail} ; Barbara K. Burton^l ; ^{bburton@luriechildrens.org" class="auth_mail} ; Christine S. Chang^m ; ^{christine.chang@ahrq.hhs.gov" class="auth_mail} ; Paul M. Coates^a ; ^{coatesp@od.nih.gov" class="auth_mail} ; Amy C. Cunninghamⁿ ; ^{acunnin@tulane.edu" class="auth_mail} ; Steven F. Dobrowolski^o ; ^{dobrowolskis@upmc.edu" class="auth_mail} ; John H. Ferguson^p ; ^{jferg@helix.nih.gov" class="auth_mail} ; Thomas D. Franklin^j ; ^{tom.franklin@npkua.org" class="auth_mail} ; Dianne M. Frazier^q ; ^{dianne_frazier@med.unc.edu" class="auth_mail} ; Dorothy K. Grange^r ; ^{grange_d@kids.wustl.edu" class="auth_mail} ; Carol L. Greene^s ; ^{cgreene@peds.umaryland.edu" class="auth_mail} ; Stephen C. Groft^p ; ^{stephen.groft@nih.gov" class="auth_mail} ; Cary O. Harding^t ; ^{hardingc@ohsu.edu" class="auth_mail} ; R. Rodney Howell^h ; ^{rhowell@miami.edu" class="auth_mail} ; Kathleen L. Huntington^t ; ^{huntingt@ohsu.edu" class="auth_mail} ; Henrietta D. Hyatt-Knorr^p ; ^{henrietta.hyatt-knorr@nih.gov" class="auth_mail} ; Indira P. Jevaji^u ; ^{indira.jevaji@cms.hhs.gov" class="auth_mail} ; Harvey L. Levy^d ; ^{harvey.levy@childrens.harvard.edu" class="auth_mail} ; Uta Lichter-Konecki^v ; ^{ulichter@cnmc.org" class="auth_mail} ; Mary Lou Lindegren^w ; ^{marylou.lindegren@vanderbilt.edu" class="auth_mail} ; Michele A. Lloyd-Puryear^a ; ² ; ^{lloydpuryearma@od.nih.gov" class="auth_mail} ; Kimberlee Matalon^x ; ^{kmatalon@uh.edu" class="auth_mail} ; Anita MacDonald^y ; ^{anita.macdonald@bch.nhs.uk" class="auth_mail} ; Melissa L. McPheeters^z ; ^{melissa.mcpheeters@vanderbilt.edu" class="auth_mail} ; John J. Mitchell^aa ; ^{john.mitchell@muhc.mcgill.ca" class="auth_mail} ; Shideh Mofidi^ab ; ^{shideh_mofidi@nymc.edu" class="auth_mail} ; Kathryn D. Moseley^ac ; ^{kmoseley@usc.edu" class="auth_mail} ; Christine M. Mueller^ad ; ^{christine.mueller@nih.gov" class="auth_mail} ; Andrew E. Mulberg^ae ; ^{andrew.mulberg@fda.hhs.gov" class="auth_mail} ; Lata S. Nerurkar^p ; ^{lnerurkar@gmail.com" class="auth_mail} ; Beth N. Ogata^af ; ^{bogata@uw.edu" class="auth_mail} ; Anne R. Pariser^ae ; ^{anne.pariser@fda.hhs.gov" class="auth_mail} ; Suyash Prasad^ag ; ^{sprasad@bmrn.com" class="auth_mail} ; Gabriella Pridjianⁿ ; ^{pridjian@tulane.edu" class="auth_mail} ; Sonja A. Rasmussen^ah ; ^{skr9@cdc.gov" class="auth_mail} ; Uma M. Reddy^b ; ^{reddyu@mail.nih.gov" class="auth_mail} ; Frances J. Rohr^ai ; ^{frances.rohr@childrens.harvard.edu" class="auth_mail} ; Rani H. Singh^c ; ^{rsingh@emory.edu" class="auth_mail} ; Sandra M. Sirrs^aj ; ^{sandra.sirrs@vch.ca" class="auth_mail} ; Stephanie E. Stremer^ak ; ^{sstremer@yahoo.com" class="auth_mail} ; Danilo A. Tagle^al ; ^{danilo.tagle@nih.gov" class="auth_mail} ; Susan M. Thompson^am ; ^{sue.thompson@health.nsw.gov.au" class="auth_mail} ; Tiina K. Urv^b ; ^{urvtiin@mail.nih.gov" class="auth_mail} ; Jeanine R. Utz^an ; ^{jutz1@fairview.org" class="auth_mail} ; Francjan van Spronsen^ao ; ^{f.j.van.spronsen@umcg.nl" class="auth_mail} ; Jerry Vockley^o ; ^{vockleyg@upmc.edu" class="auth_mail} ; Susan E. Waisbren^d ; ^{susan.waisbren@childrens.harvard.edu" class="auth_mail} ; Linda S. Weglicki^ap ; ^{weglickils@mail.nih.gov" class="auth_mail} ; Desiré ; e A. White^aq ; ^{dawhite@wustl.edu" class="auth_mail} ; Chester B. Whitley^an ; ^{whitley@umn.edu" class="auth_mail} ; Benjamin S. Wilfond^ar ; ^{benjamin.wilfond@seattlechildrens.org" class="auth_mail} ; Steven Yannicelli^as ; ^{steven.yannicelli@nutricia.com" class="auth_mail} ; Justin M. Young^at ; ^{jmichaelyoung@yahoo.com" class="auth_mail}

关键词：AAV ; adeno-associated virus ; ACMG ; American College of Medical Genetics and Genomics ; AHRQ ; Agency for Healthcare Research and Quality ; BH4 ; tetrahydrobiopterin ; BMD ; bone mineral density ; CDE ; Common Data Element ; CHD ; congenital heart disease ; CNS ; central nervous system ; COA ; clinical outcome assessment ; DXA ; dual-energy X-ray absorptiometry ; DHA ; docosahexaenoic acid ; DHPR ; dihydropteridine reductase ; DRI ; Dietary Reference Intake ; EPC ; Evidence-based Practice Center ; FDA ; U.S. Food and Drug

刊名：Molecular Genetics and Metabolism

出版年：June 2014

作者：Thomas Opladen^a ; Georg F. Hoffmann^a ; Andrea A. Kü ; hn^b ; Nenad Blau^a ; ^{nenad.blau@med.uni-heidelberg.de}

关键词：Tetrahydrobiopterin (BH4) ; DRD ; Sapropterin ; Kuvan

刊名：Molecular Genetics and Metabolism

出版年：2013

作者：Maureen Cleary ; Friedrich Trefz ; Ania C. Muntau ; Fran莽ois Feillet ; Francjan J. van Spronsen ; Alberto Burlina ; Amaya B茅langer-Quintana ; Maria Gi偶ewska ; Christoph Gasteyger ; Esther Bettiol ; Nenad Blau ; Anita MacDonald

关键词：BH4 ; 6R-tetrahydrobiopterin ; ECT ; early and continuously treated ; HPA ; hyperphenylalaninemia ; IDC ; index of dietary control ; IQ ; intelligence quotient ; LNAA ; large neutral amino acid ; PAH ; phenylalanine hydroxylase ; PKU ; phenylketonuria ; SD ; standard deviation ; SEE ; standard error of the estimate ; Tyr ; tyrosine ; WISC ; Wechsler Intelligence Scale for Children

刊名：Molecular Genetics and Metabolism

出版年：December, 2013

作者：Caroline Heintz^a ; Heinz Troxler^a ; Aurora Martinez^b ; Beat Thö ; ny^a ; ^c ; ^d ; Nenad Blau^a ; ^c ; ^d ; ^e ; ^{nenad.blau@kispi.uzh.ch}

关键词：LC&ndash ; ESI-MSMS ; liquid chromatography electrospray ionization tandem mass spectrometry ; Phe ; phenylalanine ; Tyr ; tyrosine ; PAH ; phenylalanine hydroxylase ; PKU ; phenylketonuria ; BH4 ; tetrahydrobiopterin

刊名：Molecular Genetics and Metabolism

出版年：2012

作者：Caroline Heintz ; Steven F. Dobrowolski ; Henriette Skovgaard Andersen ; M¨¹beccel Demirkol ; Nenad Blau ; Brage Storstein Andresen

关键词：Phenylketonuria ; Tetrahydrobiopterin ; Hyperphenylalaninemia ; Pseudoexon ; Exomic splicing enhancer ; mRNA splicing

刊名：Molecular Genetics and Metabolism

出版年：2012

作者：Sarah  ; Mangold^a ;   ; ^{smangold@ukaachen.de} ; Nenad  ; Blau^b ;   ; ^c ;   ; ^d ;   ; ^{nenad.blau@kispi.uzh.ch} ; Thomas  ; Opladen^e ;   ; ^{Thomas.opladen@med.uni-heidelberg.de} ; Robert  ; Steinfeld^f ;   ; ^{rsteinfeld@med.uni-goettingen.de} ; Britta  ; Weß ; ling^a ;   ; ^{bwessling@ukaachen.de} ; Klaus  ; Zerres^g ;   ; ^{kzerres@ukaachen.de} ; Martin  ; Hä ; usler^a ;   ; ^{haeusler@rwth-aachen.de}

关键词：Cerebral folate deficiency ; Antiepileptics ; Mental retardation ; Epilepsy ; Ataxia

刊名：Molecular Genetics and Metabolism

出版年：2011

作者：Steven F. Dobrowolski^a ; ¹ ; Caroline Heintz^b ; ¹ ; Trent Miller^c ; Clinton Ellingson^d ; Clifford Ellingson^e ; Iş ; ı ; l Ö ; zer^f ; Gulden Gö ; kç ; ay^f ; Tolunay Baykal^f ; Beat Thö ; ny^b ; ^g ; ^h ; Mü ; beccel Demirkol^f ; ^{demirkolm@istanbul.edu.tr} ; Nenad Blau^b ; ^g ; ^h ; ^{nenad.blau@kispi.uzh.ch}

关键词：Phenylketonuria ; Sapropterin ; Hyperphenylalaninemia ; BH₄ ; PKU ; PAH

刊名：Molecular Genetics and Metabolism

出版年：2011

作者：Nenad Blau^a ; ^b ; ^c ; ^{nenad.blau@kispi.uzh.ch} ; Julia B. Hennermann^d ; ^{julia.hennermann@charite.de} ; Ulrich Langenbeck^e ; ^{ulrich.langenbeck@gmx.net} ; Uta Lichter-Konecki^f ; ^{ulichter@childrensnational.org}

关键词：BH4 ; tetrahydrobiopterin ; CNS ; central nervous system ; DHPR ; dihydropteridine reductase ; DBS ; dried blood spot ; HPA ; hyperphenylalaninemia ; KOUT ; 1st order rate of metabolic disposal ; MHP ; mild HPA ; PAH ; phenylalanine hydroxylase ; PBW ; percent body weight

刊名：Molecular Genetics and Metabolism

出版年：2011