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：Anne M. Comi ; MD^a ; ^b ; ^{comi@kennedykrieger.org" class="auth_mail" title="E-mail the corresponding author} ; Mustafa Sahin ; MD ; PhD^c ; Adrienne Hammill ; MD ; PhD^d ; Emma H. Kaplan ; BA^a ; Csaba Juhá ; sz ; MD ; PhD^e ; ^f ; Paula North ; MD ; PhD^g ; Karen L. Ball ; BS^h ; Alex V. Levin ; MD ; MHSc ; FRCSCⁱ ; ^j ; Bernard Cohen ; MD^b ; ^k ; Jill Morris ; PhD^l ; Warren Lo ; MD^m ; E. Steve Roach ; MD^m ; participants of the 2015 Sturge-Weber Syndrome Research WorkshopNicolas Abreu ; MD ; Maria Acosta ; MD ; Karen L. Ball ; Audina Berrocal ; MD ; Joyce Bischoff ; PhD ; James Brodie ; Craig Burkhart ; MD ; Bernard Cohen ; MD ; Anne M. Comi ; MD ; Gosia Dymerska ; David Eckstein ; PhD ; Mabel Enriquez-Algeciras ; Joshua Ewen ; MD ; Brian Fisher ; Sharon Freedman ; MD ; Emily Germain-Lee ; MD ; Roy Geronemus ; MD ; Michael Gold ; MD ; Rashmi Gopal-Srivastava ; MS ; PhD ; Adrienne Hammill ; MD ; PhD ; Adelaide Hebert ; MD ; Lan Huang ; PhD ; Henry Jampel ; MD ; MHS ; Csaba Juhá ; sz ; MD ; PhD ; Emma H. Kaplan ; Matsanga Kaseka ; MD ; Yasmine Kirkorian ; MD ; Eric Kossoff ; MD ; Alex V. Levin ; MD ; MHSc ; FRCSC ; Doris Lin ; MD ; PhD ; Warren Lo ; MD ; Jeffrey Loeb ; MD ; PhD ; Kalyani Marathe ; MD ; MPH ; Doug Marchuk ; PhD ; Alice Mead ; JD ; Scott Mellis ; MD ; PhD ; Jill Morris ; PhD ; Timothy Murray ; MD ; MBA ; FACS ; Paula North ; MD ; PhD ; Thuy Phung ; MD ; PhD ; Anna Pinto ; MD ; PhD ; Kate Puttgen ; MD ; Nancy Ratner ; PhD ; Jennifer Reeve ; MD ; PhD ; Steve Roach ; MD ; Mustafa Sahin ; MD ; PhD ; Charles Swindell ; PhD ; Hung Tseng ; PhD ; Miriya Tune ; Sarah Wetzel-Strong ; PhD ; Monica White ; PharmD ; Vicky Whittemore ; PhD

关键词：Sturge-Weber syndrome ; GNAQ ; somatic mutation ; port-wine birthmark ; glaucoma ; seizures

刊名：Pediatric Neurology

出版年：2016

作者：Kathryn M. Camp ; Michele A. Lloyd-Puryear ; Lynne Yao ; Stephen C. Groft ; Melissa A. Parisi ; Andrew Mulberg ; Rashmi Gopal-Srivastava ; Stephen Cederbaum ; Gregory M. Enns ; Abby G. Ershow ; Dianne M. Frazier ; John Gohagan ; Cary Harding ; R. Rodney Howell ; Karen Regan ; Peter W. Stacpoole ; Charles Venditti ; Jerry Vockley ; Michael Watson ; Paul M. Coates ; et al.

关键词：IEM ; inborn errors of metabolism ; NIH ; National Institutes of Health ; ODS ; Office of Dietary Supplements ; ORDR ; Office of Rare Diseases Research ; HRSA ; Health Resources and Services Administration ; PKU ; phenylketonuria ; PAH ; phenylalanine hydroxylase ; PHE

刊名：Molecular Genetics and Metabolism

出版年：2013

作者：Robert C. Griggs ; Mark Batshaw ; Mary Dunkle ; Rashmi Gopal-Srivastava ; Edward Kaye ; Jeffrey Krischer ; Tan Nguyen ; Kathleen Paulus ; Peter A. Merkel ; For the rare diseases clinical research network

关键词：Rare diseases ; Research training ; Clinical trials ; Patient advocacy groups (PAGs)

刊名：Molecular Genetics and Metabolism

出版年：2009

作者：Upender Manne ; Rashmi-Gopal Srivastava and Sudhir Srivastava

刊名：Drug Discovery Today

出版年：2005

作者：Gopal-Srivastava ; Rashmi ; et. al.

关键词：Lens ; Cornea ; Crystallin ; Small heat shock protein ; Gene expression ; Promoter activity ; Enhancer

刊名：Mechanisms of Development

出版年：2000

作者：Haynes II ; John I. ; Gopal-Srivastava ; Rashmi ; Piatigorsky ; Joram

刊名：Biochemical and Biophysical Research Communications

出版年：1997

作者：Haynes II ; John I. ; Gopal-Srivastava ; Rashmi ; Frederikse ; Peter H. ; Piatigorsky ; Joram

关键词：Recombinant DNA ; transcription ; enhancer ; transfection

刊名：Gene

出版年：1995