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Elsevier电子期刊(10)

在“Elsevier电子期刊”中，命中：10条，耗时：小于0.01 秒

在所有数据库中总计命中：10条

1.Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

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

刊名：Molecular Genetics and Metabolism

出版年：2016

2.Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

作者：Haiqing Yi ; Fengqin Gao ; Stephanie Austin ; Priya S Kishnani ; ^{kishn001@mc.duke.edu} ; Baodong Sun ; ^{baodong.sun@duke.edu}

关键词：GSD IV ; glycogen storage disease type IV ; GAA ; acid α-glucosidase ; GBE ; glycogen branching enzyme ; ERT ; enzyme replacement therapy ; M6PR ; mannose-6-phosphate receptor ; AST ; aspartate aminotransferase ; ALT ; alanine aminotransferase

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

3.Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

关键词：Phosphorylase b kinase deficiency ; Glycogen storage disease type IX ; PHKG2 gene ; Liver adenoma ; Hypoglycemia

刊名：Molecular Genetics and Metabolism

出版年：March, 2014

4.Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibody-secreting plasma cells

作者：Suhrad G. Banugaria^a ; Trusha T. Patel^a ; Joanne Mackey^a ; Stuti Das^a ; Andrea Amalfitano^b ; ^c ; Amy S. Rosenberg^d ; Joel Charrow^e ; Y.-T. Chen^f ; Priya S. Kishnani^a ; ^{kishn001@mc.duke.edu}

关键词：Pompe disease ; Antibodies ; Immunomodulation ; Cyclophosphamide ; Rituximab ; Plasmapheresis

刊名：Molecular Genetics and Metabolism

出版年：2012

5.Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa

作者：Jeffrey J. Horvath^a ; Stephanie L. Austin^b ; Harrison N. Jones^c ; Elizabeth J. Drake^b ; Laura E. Case^d ; Brian J. Soher^a ; Mustafa R. Bashir^a ; Priya S. Kishnani^b ; ^{kishn001@mc.duke.edu}

关键词：GDE ; Glycogen Debranching Enzyme ; GSD ; Glycogen Storage Disease ; IOPI ; Iowa Oral Performance Instrument ; MRI ; Magnetic Resonance Imaging

刊名：Molecular Genetics and Metabolism

出版年：2012

6.The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

作者：Mark ; Roberts^a ; ; ¹ ; ; ^{mark.roberts@srft.nhs.uk} ; Priya S. ; Kishnani^b ; ; ¹ ; ; ^{kishn001@mc.duke.edu} ; Ans T. ; van der Ploeg^c ; ; ¹ ; ; ^{a.vanderploeg@erasmusmc.nl} ; Wolfgang ; Mü ; ller-Felber^d ; ; ¹ ; ; ^{Wolfgang.Mueller-Felber@med.uni-muenchen.de} ; Luciano ; Merlini^e ; ; ¹ ; ; ^{luciano.merlini@ior.it} ; Suyash ; Prasad^f ; ; ¹ ; ; ^{suyash@suyashprasad.com} ; Laura E. ; Case^g ; ; ¹ ; ; ^{laura.case@duke.edu}

关键词：Pompe disease ; Neuromuscular scoliosis ; Pompe Registry ; Ambulation status ; Pulmonary function

刊名：Molecular Genetics and Metabolism

出版年：2011

7.Pompe disease: Design, methodology, and early findings from the Pompe Registry

作者：Barry J. Byrne^a ; ¹ ; ^{bbyrne@ufl.edu"" rel=""nofollow} ; Priya S. Kishnani^b ; ¹ ; ^{kishn001@mc.duke.edu"" rel=""nofollow} ; Laura E. Case^c ; Luciano Merlini^d ; Wolfgang Mü ; ller-Felber^e ; Suyash Prasad^f ; ^g ; Ans van der Ploeg^h

关键词：Pompe disease ; Acid maltase deficiency ; Lysosomal acid α ; -glucosidase ; Glycogen storage disease type II ; Cardiomyopathy ; Registry

刊名：Molecular Genetics and Metabolism

出版年：2011

8.Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

作者：Areeg H. El-Gharbawy^a ; Gifty Bhat^b ; Jaime E. Murillo^c ; Beth L. Thurberg^d ; Christoph Kampmann^e ; Karl-Eugen Mengel^f ; Priya S. Kishnani^a ; ^{kishn001@mc.duke.edu"" rel=""nofollow}

关键词：Late-onset Pompe ; Dilated arteriopathy ; Ascending aortic aneurysm

刊名：Molecular Genetics and Metabolism

出版年：2011

9.An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions

作者：Areeg H. El-Gharbawy^a ; Joanne Mackey^a ; Stephanie DeArmey^a ; Greg Westby^a ; Sherry G. Grinnell^b ; Peggy Malovrh^b ; Robert Conway^c ; Priya S. Kishnani^a ; ; ^{kishn001@mc.duke.edu}

关键词：Alglucosidase alfa ; Infantile Pompe disease ; Hypersensitivity reactions ; Desensitization

刊名：Molecular Genetics and Metabolism

出版年：2011

10.Erratum to ¡°Pompe disease: Design, methodology, and early findings from the Pompe Registry?[Mol. Genet. Metabol. 103 (2011) 1?1]

作者：Barry J. ; Byrne^a ; ; ¹ ; ; ^{bbyrne@ufl.edu} ; Priya S. ; Kishnani^b ; ; ¹ ; ; ^{kishn001@mc.duke.edu} ; Laura E. ; Case^c ; Luciano ; Merlini^d ; Wolfgang ; Mü ; ller-Felber^e ; Suyash ; Prasad^f ; ; ^g ; Ans ; van der Ploeg^h

刊名：Molecular Genetics and Metabolism

出版年：2011

按检索点细分(10)

作者(10)

按出版年细分(10)

2027年及以后(1)

2016年(2)

2012年(2)

2011年(5)

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