作者：Anthony H. Futerman^a ; ^{tony.futerman@weizmann.ac.il} ; Frances M. Platt^b

关键词：Gaucher disease ; Glucosylceramide ; Enzyme replacement therapy ; Substrate reduction therapy

刊名：Molecular Genetics and Metabolism

出版年：2017

作者：Pramod K. Mistry^a ; ^{Pramod.mistry@yale.edu} ; Grisel Lopez^b ; ^{glopez@mail.nih.gov} ; Raphael Schiffmann^c ; ^{Raphael.Schiffmann@BSWHealth.org} ; Norman W. Barton^d ; ^{nbarton@shire.com} ; Neal J. Weinreb^e ; ^{boneal@winning.com} ; Ellen Sidransky^b ; ^{sidranse@mail.nih.gov}

关键词：ERT ; enzyme replacement therapy ; SRT ; substrate reduction therapy ; iPSC ; induced pluripotent stem cells ; GBA1 ; the glucocerebrosidase gene ; CBE ; conduritol β-epoxide ; HSP ; heat shock protein ; ER ; endoplasmic reticulum ; HDAC ; histone deacetylase ; NIH ; National Institutes of Health ; FDA ; Food and Drug Administration

刊名：Molecular Genetics and Metabolism

出版年：2017

作者：Richard W.D. Welford^a ; Andreas Mü ; hlemann^a ; David Priestman^b ; Marco Garzotti^a ; Caroline Deymier^a ; Eric A Ertel^a ; Marc Iglarz^a ; Daniela Baldoni^a ; Frances M. Platt^b ; Markus R. Probst^a

刊名：Molecular Genetics and Metabolism

出版年：2017

作者：Nicolas Gué ; rard^a ; Daniel Oder^b ; Peter Nordbeck^b ; Christian Zwingelstein^a ; Olivier Morand^a ; Richard Welford^a ; Jasper Dingemanse^a ; Christoph Wanner^b

刊名：Molecular Genetics and Metabolism

出版年：2017

刊名：Molecular Genetics and Metabolism

出版年：2017

刊名：Molecular Genetics and Metabolism

出版年：2017

刊名：Molecular Genetics and Metabolism

出版年：2017

作者：Jennifer Ibrahim ; Lisa H. Underhill ; John S. Taylor¹ ; Jennifer Angell ; M. Judith Peterschmitt ; ^{Judith.Peterschmitt@genzyme.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Gaucher disease type 1 ; Eliglustat ; Substrate reduction therapy ; Acid-β-glucosidase deficiency ; Imiglucerase ; Enzyme replacement therapy

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

作者：Manisha Balwani^a ; ^{manisha.balwani@mssm.edu" class="auth_mail" title="E-mail the corresponding author} ; Thomas Andrew Burrow^b ; ^{thomas.burrow@cchmc.org" class="auth_mail" title="E-mail the corresponding author} ; Joel Charrow^c ; ^{jcharrow@northwestern.edu" class="auth_mail" title="E-mail the corresponding author} ; Ozlem Goker-Alpan^d ; ^{ogokeralpan@oandoalpan.com" class="auth_mail" title="E-mail the corresponding author} ; Paige Kaplan^e ; ^{kaplan@email.chop.edu" class="auth_mail" title="E-mail the corresponding author} ; Priya S. Kishnani^f ; ^{kishn001@mc.duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Pramod Mistry^g ; ^{pramod.mistry@yale.edu" class="auth_mail" title="E-mail the corresponding author} ; Jeremy Ruskin^h ; ^{jruskin@mgh.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Neal Weinrebⁱ ; ^{boneal@winning.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Gaucher disease type 1 ; Eliglustat ; Substrate reduction therapy ; Enzyme replacement therapy

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Zhong Chen ; MBBS^* ; ^&dagger ; ; ¹ ; ^{zhong.chen@kcl.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Ben Hanson ; PhD^&Dagger ; ; Manav Sohal ; MBBS^* ; ^&dagger ; ; Eva Sammut ; MBBS^* ; ^&dagger ; ; Tom Jackson ; MBBS^* ; Nicholas Child ; MBBS^* ; ^&dagger ; ; Simon Claridge ; MBBS^* ; ^&dagger ; ; Jonathan Behar ; MBBS^* ; ^&dagger ; ; Steve Niederer ; PhD^* ; Jaswinder Gill ; MD^* ; ^&dagger ; ; Gerald Carr-White ; PhD^* ; ^&dagger ; ; Reza Razavi ; MD^* ; ^&dagger ; ; C. Aldo Rinaldi ; MD ; FHRS^* ; ^&dagger ; ; ² ; Peter Taggart ; DSc ; FHRS^&Dagger ; ; ²

关键词：Reverse remodeling ; Cardiac resynchronization therapy ; Activation recovery interval ; Action potential duration ; Myocardial strain

刊名：Heart Rhythm

出版年：2016