Phenylketonuria Scientific Review Conference: State of the science and future research needs
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- 作者：Kathryn M. Campa ; 1 ; 2 ; campkm@od.nih.gov" class="auth_mail ; Melissa A. Parisib ; 1 ; parisima@mail.nih.gov" class="auth_mail ; Phyllis B. Acostac ; pja1933@gmail.com" class="auth_mail ; Gerard T. Berryd ; gerard.berry@childrens.harvard.edu" class="auth_mail ; Deborah A. Bildere ; deborah.bilder@hsc.utah.edu" class="auth_mail ; Nenad Blauf ; g ; nenad.blau@med.uni-heidelberg.de" class="auth_mail ; Olaf A. Bodamerh ; obodamer@med.miami.edu" class="auth_mail ; Jeffrey P. Broscoi ; jbrosco@med.miami.edu" class="auth_mail ; Christine S. Brownj ; christine.brown@npkua.org" class="auth_mail ; Alberto B. Burlinak ; alberto.burlina@unipd.it" class="auth_mail ; Barbara K. Burtonl ; bburton@luriechildrens.org" class="auth_mail ; Christine S. Changm ; christine.chang@ahrq.hhs.gov" class="auth_mail ; Paul M. Coatesa ; coatesp@od.nih.gov" class="auth_mail ; Amy C. Cunninghamn ; acunnin@tulane.edu" class="auth_mail ; Steven F. Dobrowolskio ; dobrowolskis@upmc.edu" class="auth_mail ; John H. Fergusonp ; jferg@helix.nih.gov" class="auth_mail ; Thomas D. Franklinj ; tom.franklin@npkua.org" class="auth_mail ; Dianne M. Frazierq ; dianne_frazier@med.unc.edu" class="auth_mail ; Dorothy K. Granger ; grange_d@kids.wustl.edu" class="auth_mail ; Carol L. Greenes ; cgreene@peds.umaryland.edu" class="auth_mail ; Stephen C. Groftp ; stephen.groft@nih.gov" class="auth_mail ; Cary O. Hardingt ; hardingc@ohsu.edu" class="auth_mail ; R. Rodney Howellh ; rhowell@miami.edu" class="auth_mail ; Kathleen L. Huntingtont ; huntingt@ohsu.edu" class="auth_mail ; Henrietta D. Hyatt-Knorrp ; henrietta.hyatt-knorr@nih.gov" class="auth_mail ; Indira P. Jevajiu ; indira.jevaji@cms.hhs.gov" class="auth_mail ; Harvey L. Levyd ; harvey.levy@childrens.harvard.edu" class="auth_mail ; Uta Lichter-Koneckiv ; ulichter@cnmc.org" class="auth_mail ; Mary Lou Lindegrenw ; marylou.lindegren@vanderbilt.edu" class="auth_mail ; Michele A. Lloyd-Puryeara ; 2 ; lloydpuryearma@od.nih.gov" class="auth_mail ; Kimberlee Matalonx ; kmatalon@uh.edu" class="auth_mail ; Anita MacDonaldy ; anita.macdonald@bch.nhs.uk" class="auth_mail ; Melissa L. McPheetersz ; melissa.mcpheeters@vanderbilt.edu" class="auth_mail ; John J. Mitchellaa ; john.mitchell@muhc.mcgill.ca" class="auth_mail ; Shideh Mofidiab ; shideh_mofidi@nymc.edu" class="auth_mail ; Kathryn D. Moseleyac ; kmoseley@usc.edu" class="auth_mail ; Christine M. Muellerad ; christine.mueller@nih.gov" class="auth_mail ; Andrew E. Mulbergae ; andrew.mulberg@fda.hhs.gov" class="auth_mail ; Lata S. Nerurkarp ; lnerurkar@gmail.com" class="auth_mail ; Beth N. Ogataaf ; bogata@uw.edu" class="auth_mail ; Anne R. Pariserae ; anne.pariser@fda.hhs.gov" class="auth_mail ; Suyash Prasadag ; sprasad@bmrn.com" class="auth_mail ; Gabriella Pridjiann ; pridjian@tulane.edu" class="auth_mail ; Sonja A. Rasmussenah ; skr9@cdc.gov" class="auth_mail ; Uma M. Reddyb ; reddyu@mail.nih.gov" class="auth_mail ; Frances J. Rohrai ; frances.rohr@childrens.harvard.edu" class="auth_mail ; Rani H. Singhc ; rsingh@emory.edu" class="auth_mail ; Sandra M. Sirrsaj ; sandra.sirrs@vch.ca" class="auth_mail ; Stephanie E. Stremerak ; sstremer@yahoo.com" class="auth_mail ; Danilo A. Tagleal ; danilo.tagle@nih.gov" class="auth_mail ; Susan M. Thompsonam ; sue.thompson@health.nsw.gov.au" class="auth_mail ; Tiina K. Urvb ; urvtiin@mail.nih.gov" class="auth_mail ; Jeanine R. Utzan ; jutz1@fairview.org" class="auth_mail ; Francjan van Spronsenao ; f.j.van.spronsen@umcg.nl" class="auth_mail ; Jerry Vockleyo ; vockleyg@upmc.edu" class="auth_mail ; Susan E. Waisbrend ; susan.waisbren@childrens.harvard.edu" class="auth_mail ; Linda S. Weglickiap ; weglickils@mail.nih.gov" class="auth_mail ; Desiré ; e A. Whiteaq ; dawhite@wustl.edu" class="auth_mail ; Chester B. Whitleyan ; whitley@umn.edu" class="auth_mail ; Benjamin S. Wilfondar ; benjamin.wilfond@seattlechildrens.org" class="auth_mail ; Steven Yannicellias ; steven.yannicelli@nutricia.com" class="auth_mail ; Justin M. Youngat ; 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
- 年：2014
- 卷：112
- 期：2
- 页码：87-122
- 全文大小：1299 K
文摘
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NIH convened work groups and a conference to address research and treatment for PKU.
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Sapropterin may allow liberalization of a Phe-restricted diet for those who respond.
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New therapies are needed to optimize quality of life across the lifespan.
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Research is needed on strategies to improve access to and compliance with treatment.
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Management guidelines must be based on rigorous study design and outcome measures.