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Wiley电子期刊(18)	SpringerLink电子期刊(405)	Elsevier电子期刊(996)
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在“Elsevier电子期刊”中，命中：996条，耗时：0.065972 秒

在所有数据库中总计命中：1,461条

1.Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

作者：Amal El-Beshlawy^a ; Anna Tylki-Szymanska^b ; Ashok Vellodi^c ; Nadia Belmatoug^d ; Gregory A. Grabowski^e ; ^f ; Edwin H. Kolodny^g ; Julie L. Batista^h ; Gerald F. Coxⁱ ; ¹ ; Pramod K. Mistry^j ; ^{pramod.mistry@yale.edu}

关键词：Gaucher disease type 3 ; Enzyme replacement therapy ; Imiglucerase ; Registry ; Anemia ; Thrombocytopenia ; Hepatosplenomegaly ; Growth

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

作者：Nadia Belmatoug^a ; ^{nadia.belmatoug@aphp.fr} ; Maja Di Rocco^b ; ^{majadirocco@ospedale-gaslini.ge.it} ; Cristina Fraga^c ; ^{maria.cf.barros@azores.gov.pt} ; Pilar Giraldo^d ; ^{giraldocastellano@gmail.com} ; Derralynn Hughes^e ; Elena Lukina^f ; ^{elenalukina02@gmail.com} ; Pierre Maison-Blanche^g ; ^{ipmb@wanadoo.fr} ; Martin Merkel^h ; ^{m.merkel@asklepios.com} ; Claus Niederauⁱ ; ^{c.niederau@kk-ob.de} ; Ursula Plӧckinger^j ; ^{ursula.ploeckinger@charite.de} ; Johan Richter^k ; ^{johan.richter@med.lu.se} ; Thomas M. Stulnig^l ; ^{thomas.stulnig@meduniwien.ac.at} ; Stephan vom Dahl^m ; ^{Stephan.vomdahl@med.uni-duesseldorf.de} ; Timothy M. Coxⁿ ; ^{tmc12@medschl.cam.ac.uk}

关键词：BMD ; bone mineral density ; ECG ; electrocardiogram ; ERT ; enzyme replacement therapy ; ICGG ; International Collaborative Gaucher Group

刊名：European Journal of Internal Medicine

出版年：2017

3.Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease

作者：Deborah Elstein^a ; ¹ ; ^{delstein-c@shire.com} ; T. Andrew Burrow^b ; Joel Charrow^c ; Pilar Giraldo^d ; ^e ; Atul Mehta^f ; Gregory M. Pastores^g ; ^h ; Hak-Myung Leeⁱ ; Bjö ; rn Mellgard^j ; Ari Zimran^a

关键词：AE ; adverse event ; EAP ; early access program ; ERT ; enzyme replacement therapy ; GD1 ; type 1 Gaucher disease ; IRAE ; infusion-related adverse event

刊名：Molecular Genetics and Metabolism

出版年：2017

4.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

5.The metabolism of glucocerebrosides — From 1965 to the present

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

6.Lysosomal acid lipase deficiency: Expanding differential diagnosis

作者：Vassili Valayannopoulos^a ; ^{vassilival.boston@gmail.com} ; Eugen Mengel^b ; Anais Brassier^a ; Gregory Grabowski^c

关键词：Lysosomal acid lipase deficiency ; Lysosomal storage disease ; Microvesicular steatosis ; Dyslipidemia ; Enzyme replacement therapy ; Hepatomegaly

刊名：Molecular Genetics and Metabolism

出版年：2017

7.Transformation in pre-treatment presentations of Gaucher disease during the first two decades of imiglucerase enzyme replacement therapy: a report from the International Collaborative Gaucher Group Gaucher Registry

作者：Neal J Weinreb^a ; Julie Batista^b ; Hans C Andersson^c ; Manisha Balwani^d ; T. Andrew Burrow^e ; Joel Charrow^f ; Paige Kaplan^g ; Aneal Khan^h ; Priya S Kishnaniⁱ ; Edwin H Kolodny^j ; Barry E Rosenbloom^k ; C. Ronald Scott^l ; Pramod K Mistry^m

刊名：Molecular Genetics and Metabolism

出版年：2017

8.Treatment patterns from 647 patients with Gaucher disease: an analysis from the Gaucher Outcome Survey

作者：Patrick Deegan^a ; Diego Fernandez-Sasso^b ; Pilar Giraldo^c ; ^d ; Heather Lau^e ; Zoya Panahloo^f ; Ari Zimran^g

刊名：Molecular Genetics and Metabolism

出版年：2017

9.Medical histories in Gaucher disease: a descriptive analysis from 852 patients in the Gaucher Outcome Survey (GOS)

作者：Deborah Elstein^a ; Nadia Belmatoug^b ; Pilar Giraldo^c ; ^d ; Heather Lau^e ; Elena Lukina^f ; Zoya Panahloo^a ; Ari Zimran^g

刊名：Molecular Genetics and Metabolism

出版年：2017

10.Personalized medicine strategies in lysosomal diseases: cell models for in vitro screening in Gaucher disease

作者：Margarita Ivanova ; Erk Changsila ; Ozlem Goker-Alpan

刊名：Molecular Genetics and Metabolism

出版年：2017

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