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Wiley电子期刊(2)	SpringerLink电子期刊(27)	Elsevier电子期刊(240)
Springer电子图书(1)	NATURE电子期刊(1)	ACS电子期刊(5)

在“Elsevier电子期刊”中，命中：240条，耗时：小于0.01 秒

在所有数据库中总计命中：276条

1.Gaucher disease: Progress and ongoing challenges

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

2.Testing and modelling of a novel oil-free co-rotating scroll machine with water injection

作者：Luis Carlos Mendoza^a ; ^{luis.mendoza@epfl.ch} ; Sylvain Lemofouet^b ; Jü ; rg Schiffmann^a

关键词：Co-rotating scroll machine ; Isothermal expansion-compression ; Water injection ; Deterministic model ; Leakage model ; Oil-free

刊名：Applied Energy

出版年：2017

3.Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

作者：Raphael Schiffmann¹ ; ^{raphael.schiffmann@baylorhealth.edu} ; Derralynn A. Hughes² ; Gabor E. Linthorst³ ; Alberto Ortiz⁴ ; Einar Svarstad⁵ ; ⁶ ; David G. Warnock⁷ ; Michael L. West⁸ ; Christoph Wanner⁹ ; ^{wanner_c@ukw.de} ; for Conference Participants¹⁰ ; Daniel G. Bichet ; Erik Ilsø ; Christensen ; Ricardo Correa-Rotter ; Perry M. Elliott ; Sandro Feriozzi ; Agnes B. Fogo ; Dominique P. Germain ; Carla E.M. Hollak ; Robert J. Hopkin ; Jack Johnson ; Ilkka Kantola ; Jeffrey B. Kopp ; Jü ; rgen Krö ; ner ; Ale&scaron ; Linhart ; Ana Maria Martins ; Dietrich Matern ; Atul B. Mehta ; Renzo Mignani ; Behzad Najafian ; Ichiei Narita ; Kathy Nicholls ; Greg T. Obrador ; Joã ; o Paulo Oliveira ; Antonio Pisani ; Juan Politei ; Uma Ramaswami ; Markus Ries ; Wim Terryn ; Camilla Tø ; ndel ; Roser Torra ; Bojan Vujkovac ; Stephen Waldek ; Jerry Walter

关键词：chronic kidney disease ; enzyme replacement therapy ; Fabry disease ; Fabry nephropathy ; standard of care

刊名：Kidney International

出版年：2017

4.Re: Limitations of Elastography Based Prostate Biopsy: J. Schiffmann, M. Grindei, Z. Tian, D.-J. Yassin, T. Steinwender, S.-R. Leyh-Bannurah, M. Randazzo, M. Kwiatkowski, P. I. Karakiewicz, P. Hammerer and L. Manka J Urol 2016; 195: 1731-1736.

刊名：The Journal of Urology

出版年：2017

5.The affine Yangian of revisited

作者：Alexander Tsymbaliuk ^{otsymbaliuk@scgp.stonybrook.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Affine Yangian ; Yangian of gl1gl1 ; Toroidal of gl1gl1 ; Representation theory ; Shuffle algebra

刊名：Advances in Mathematics

出版年：2017

6.Effects of treatment with migalastat on the combined endpoint of kidney globotriaosylcermide accumulation and diarrhea in patients with Fabry disease: results from the phase 3 FACETS study

作者：Dominique P. Germain^a ; Derralynn A. Hughes^b ; Daniel G. Bichet^c ; Raphael Schiffmann^d ; William R. Wilcox^e ; Fred Holdbrook^f ; Christopher Viereck^f ; Julie Yu^f ; Nina Skuban^f ; Jeffrey P. Castelli^f ; Jay A. Barth^f

刊名：Molecular Genetics and Metabolism

出版年：2017

7.Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT

作者：Ulla Feldt-Rasmussen^a ; Roberto Giugliani^b ; Dominique P. Germain^c ; Derralynn A. Hughes^d ; William R. Wilcox^e ; Raphael Schiffmann^f ; Daniel G. Bichet^g ; Ana Jovanovic^h ; Drago Bratkovicⁱ ; Jeffrey P. Castelli^j ; Julie Yu^j ; Nina Skuban^j ; Jay A. Barth^j

刊名：Molecular Genetics and Metabolism

出版年：2017

8.Characterization of a chemically modified plant cell culture expressed human α-galactosidase-A enzyme for treatment of Fabry disease

作者：Yoseph Shaaltiel^a ; Raphael Schiffmann^b ; Jin-Song Shen^b ; Yaniv Azulay^a ; Dani Bartfeld^a ; Yakir Nataf^a ; Yoram Tekoah^a ; Gil Arvatz^a ; Avidor Shulman^a ; Ilya Ruderfer^a ; Tali Kizhner^a

刊名：Molecular Genetics and Metabolism

出版年：2017

9.One-year follow up of Fabry disease patients treated by IV administration of a plant derived alpha-Gal-A enzyme: safety and efficacy

作者：Derralynn Hughes^a ; Simeon Boyd^b ; Pilar Giraldo^c ; Derlis Gonzalez^d ; Myrl Holida^e ; Ozlem Goker-Alpan^f ; Gustavo Maegawa^g ; Mohamed Atta^h ; Kathy Nichollsⁱ ; ^j ; Raphael Schiffmann^k ; Ahmad Tuffaha^l ; Laura Barisoni^m ; Robert Colvinⁿ ; J. Charles Jannette^o ; Jenny Krupko^p ; Mali Szlaifer^p ; Einat Brill-Almon^p ; Raul Chertkoff^p

刊名：Molecular Genetics and Metabolism

出版年：2017

10.Is Fabry disease frequently undiagnosed in patients with common heart disease?

作者：Raphael Schiffmann^a ; Caren Swift^a ; Nathan McNeill^a ; Elfrida R Benjamin^b ; Lawrence Sweetman^a ; Xuan Wang^a ; Xiaoyang Wu^b

刊名：Molecular Genetics and Metabolism

出版年：2017

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