作者：Kathryn M. Camp^a ; ¹ ; ^{campkm@od.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Danuta Krotoski^b ; ^{krotoskd@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Melissa A. Parisi^b ; ^{parisima@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Katrina A. Gwinn^c ; ^{gwinnk@ninds.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Bruce H. Cohen^d ; ^{bcohen@chmca.org" class="auth_mail" title="E-mail the corresponding author} ; Christine S. Cox^e ; ^{outreach@mitoaction.org" class="auth_mail" title="E-mail the corresponding author} ; Gregory M. Enns^f ; ^{genns@stanford.edu" class="auth_mail" title="E-mail the corresponding author} ; Marni J. Falk^g ; ^{falkm@email.chop.edu" class="auth_mail" title="E-mail the corresponding author} ; Amy C. Goldstein^h ; ^{amy.goldstein@chp.edu" class="auth_mail" title="E-mail the corresponding author} ; Rashmi Gopal-Srivastavaⁱ ; ^{rashmi.gopal-srivastava@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Grá ; inne S. Gorman^j ; ^{grainne.gorman@newcastle.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Stephen P. Hersh^k ; ^{hershs@starpower.net" class="auth_mail" title="E-mail the corresponding author} ; Michio Hirano^l ; ^{mh29@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author} ; Freddie Ann Hoffman^m ; ^{fhoffman@heterogeneity-LLC.com" class="auth_mail" title="E-mail the corresponding author} ; Amel Karaaⁿ ; ^{akaraa@mgh.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Erin L. MacLeod^o ; ^{emacleod@childrensnational.org" class="auth_mail" title="E-mail the corresponding author} ; Robert McFarland^j ; ^{robert.mcfarland@newcastle.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Charles Mohan^p ; ^{chuckm@umdf.org" class="auth_mail" title="E-mail the corresponding author} ; Andrew E. Mulberg^q ; ² ; ^{amulberg@amicusrx.com" class="auth_mail" title="E-mail the corresponding author} ; Joanne C. Odenkirchen^c ; ^{jo21x@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Sumit Parikh^r ; ^{parikhs@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Patricia J. Rutherford^s ; ^{triciarutherford@vitaflo.co.uk" class="auth_mail" title="E-mail the corresponding author} ; Shawne K. Suggs-Anderson^t ; ^{shawne.suggs-anderson@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; W.H. Wilson Tang^u ; ^{tangw@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Jerry Vockley^v ; ^{gerard.vockley@chp.edu" class="auth_mail" title="E-mail the corresponding author} ; Lynne A. Wolfe^w ; ^{lynne.wolfe@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Steven Yannicelli^x ; ^{steven.yannicelli@nutricia.com" class="auth_mail" title="E-mail the corresponding author} ; Philip E. Yeske^p ; ^{philip.yeske@umdf.org" class="auth_mail" title="E-mail the corresponding author} ; Paul M. Coates^a ; ^{coatesp@od.nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：ACMG ; American College of Medical Genetics and Genomics ; ATP ; adenosine triphosphate ; CDE ; common data elements ; cGMP ; current good manufacturing practices ; CNS ; central nervous system ; CoQ10 ; coenzyme Q10 ; CPEO ; chronic progressive external ophthalmoplegia ; DSHEA ; Dietary Supplement Health and Education Act of 1994 ; FDA ; U.S. Food and Drug Administration ; FFDCA ; Federal Food ; Drug ; and Cosmetic Act ; GMDI ; Genetic Metabolic Dietitians International ; FSDU ; Food for Special Dietary Use ; IEM ; inbor

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Elsa Shapiro^a ; ^b ; ^{shapi004@umn.edu" class="auth_mail" title="E-mail the corresponding author} ; Jessica Bernstein^c ; ^{jessica.bernstein@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; Heather R. Adams^d ; ^{Heather_Adams@URMC.Rochester.edu" class="auth_mail" title="E-mail the corresponding author} ; Ann J. Barbier^e ; ¹ ; ^{annjbarbier@aol.com" class="auth_mail" title="E-mail the corresponding author} ; Teresa Buracchio^c ; ^{teresa.buracchio@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; Peter Como^f ; ^{peter.como@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; Kathleen A. Delaney^b ; ^a ; ^{kate.delaney@shapiroanddelaney.com" class="auth_mail" title="E-mail the corresponding author} ; Florian Eichler^g ; ^{feichler@partners.org" class="auth_mail" title="E-mail the corresponding author} ; Jonathan C. Goldsmith^c ; ^{jonathan.goldsmith@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; Melissa Hogan^h ; ^{melissa@savingcase.com" class="auth_mail" title="E-mail the corresponding author} ; Sarrit Kovacs^c ; ^{sarrit.kovacs@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; Jonathan W. Minkⁱ ; ^{Jonathan_Mink@URMC.Rochester.edu" class="auth_mail" title="E-mail the corresponding author} ; Joanne Odenkirchen^j ; ^{jo21x@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Melissa A. Parisi^k ; ^{parisima@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Alison Skrinar^l ; ^{ASkrinar@ultragenyx.com" class="auth_mail" title="E-mail the corresponding author} ; Susan E. Waisbren^m ; ^{Susan.Waisbren@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Andrew E. Mulberg^c ; ^{andrew.mulberg@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：Inborn errors ; Neurocognitive ; Clinical outcome assessment ; Natural history studies ; Rare diseases ; Drug development

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Simone P. Pinheiro ; ScD ; MSc^a ; ^{simone.pinheiro@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; Donna R. Rivera ; PharmD ; MSc^b ; David J. Graham ; MD ; MPH^a ; Andrew N. Freedman ; PhD^b ; Jacqueline M. Major ; PhD ; MS^a ; Lynne Penberthy ; MD ; PhD^b ; Mark Levenson ; PhD^c ; Marie C. Bradley ; PhD ; MPH ; MPharm^a ; ^b ; Hui-Lee Wong ; PhD ; MSc^a ; Rita Ouellet-Hellstrom ; PhD ; MPH^a

关键词：Cancer epidemiology ; Pharmacoepidemiology ; Drug safety

刊名：Annals of Epidemiology

出版年：2016