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在“Elsevier电子期刊”中，命中：480条，耗时：0.0829602 秒

在所有数据库中总计命中：1,197条

1.A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase

作者：C.A. Maile^a ; J.R. Hingst^b ; K.K. Mahalingan^c ; A.O. O'Reilly^d ; M.E. Cleasby^e ; J.R. Mickelson^f ; M.E. McCue^g ; S.M. Anderson^g ; T.D. Hurley^c ; J.F.P. Wojtaszewski^b ; R.J. Piercy^a ; ^{rpiercy@rvc.ac.uk}

关键词：PSSM1 ; Polyglucosan ; Glycogen synthase ; Glycogen ; Muscle ; Glycogen storage disease

刊名：Biochimica et Biophysica Acta (BBA) - General Subjects

出版年：2017

2.Iliopsoas abscess as a complication of glycogen storage disease 1b

作者：Marcos Prada-Arias^a ; ^d ; ^{marcos.prada.arias@sergas.es} ; Javier Gó ; mez-Veiras^a ; José ; Luis Vá ; zquez^b ; Alfonso Bao-Corral^c ; Margarita Montero-Sá ; nchez^a ; ^d ; José ; Ramó ; n Ferná ; ndez-Lorenzo^c ; ^d

关键词：Glycogen storage disease 1 ; Inflammatory bowel disease ; Iliopsoas abscess

刊名：Journal of Pediatric Surgery Case Reports

出版年：2017

3.Quantification of muscle pathology in infantile Pompe disease

作者：Anne Schä ; nzer^a ; ^{anne.schaenzer@patho.med.uni-giessen.de} ; Ann-Kathrin Kaiser^a ; Christian Mü ; hlfeld^b ; Martin Kulessa^a ; Werner Paulus^c ; Harald von Pein^d ; Marianne Rohrbach^e ; Lara Viergutz^a ; Eugen Mengel^f ; Thorsten Marquardt^g ; Bernd Neubauer^h ; Till Acker^a ; ¹ ; Andreas Hahn^h ; ¹

关键词：Pompe disease ; Glycogen storage disease type II ; Enzyme replacement therapy ; Lysosomal storage disease ; Acid maltase deficiency ; Autophagy

刊名：Neuromuscular Disorders

出版年：2017

4.Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib

作者：Rudolf Letkemann^a ; ^{r.letkemann@uni-muenster.de} ; Helmut Wittkowski^b ; ^{helmut.wittkowski@ukmuenster.de} ; Aristotelis Antonopoulos^c ; ^{a.antonopoulos@imperial.ac.uk} ; Teodor Podskabi^d ; ^{metabolic-genetic-disease@gmx.de} ; Stuart M. Haslam^c ; ^{s.haslam@imperial.ac.uk} ; Dirk Fö ; ll^b ; ^{dfoell@uni-muenster.de} ; Anne Dell^c ; ^{a.dell@imperial.ac.uk} ; Thorsten Marquardt^a ; ^{marquat@uni-muenster.de}

关键词：CHAPS ; 3-[(3-cholamidopropyl)dimethylammonio]-1-propanesulfonate ; CDG ; congenital disorder of glycosylation ; DHR ; dihydrorhodamine ; E. coli ; Escherichia coli ; EDTA ; ethylenediaminetetraacetic acid ; FICT ; fluorescein isothiocyanate ; fMLP ; formyl-methionyl-leucyl-phenylalanine ; G1P ; glucose 1-phosphate ; G6P ; glucose 6-phosphate ; G6PC ; glucose 6-phosphate catabolic ; G6PT ; glucose 6-phosphate transporter ; GCSF ; granulocyte-colony stimulating factor ; GSD-Ib ; glycogen storage disease type Ib ; HMPS ; he

刊名：International Immunopharmacology

出版年：2017

5.Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation

作者：Stephanie L. Austin^a ; Andrew Chiou^a ; Baodong Sun^a ; Laura E. Case^b ; Kenny Govendrageloo^c ; Perrin Hansen^d ; Priya S. Kishnani^a ; ^{priya.kishnani@dm.duke.edu}

关键词：ERT ; enzyme replacement therapy ; GAA ; acid alpha-glucosidase ; GSD ; glycogen storage diseases ; AMPK ; AMP-activated protein kinase ; rhGAA ; recombinant human GAA ; IVS ; interventricular septum ; LVPW ; left ventricular posterior wall ; PT ; physical therapy ; AST ; aspartate aminotransferase ; ALT ; alanine transaminase ; MABC ; Movement ABC ; MDC ; minimal detectable change ; MID ; minimal important difference ; M-FUN ; Miller Function and Participation Scales ; GLUT4 ; glucose transporter 4 ; G6P ; glucose 6-phosphat

刊名：Molecular Genetics and Metabolism

出版年：2017

6.Luteolin improves non-alcoholic fatty liver disease in db/db mice by inhibition of liver X receptor activation to down-regulate expression of sterol regulatory element binding protein 1c

作者：Ye Yin^b ; ¹ ; Lu Gao^b ; ¹ ; Haiyan Lin^b ; Yue Wu^b ; Xiao Han^b ; Yunxia Zhu^b ; ^{zhuyx@njmu.edu.cn} ; Jie Li^a ; ^{lijiemd@163.com}

关键词：Non-alcoholic fatty liver disease ; Luteolin ; Liver X receptor ; Fatty acid ; db/db mouse

刊名：Biochemical and Biophysical Research Communications

出版年：2017

7.Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration

作者：Goo-Young Kim^a ; Young Mok Lee^a ; Joon Hyun Kwon^a ; Hyun Sik Jun^b ; ^{toddjun@korea.ac.kr} ; Janice Chou^a ; ^{chouja@mail.nih.gov}

关键词：Glucose-6-phosphate transporter ; CD11a ; CD11b ; Neutrophil adhesion ; Migration

刊名：Biochemical and Biophysical Research Communications

出版年：2017

8.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

9.A novel GBE1 gene variant in a child with glycogen storage disease type IV

作者：Samar M. Said ; MD^a ; ^{said.samar@mayo.edu" class="auth_mail" title="E-mail the corresponding author} ; Marine I. Murphree ; CGC^b ; Taofic Mounajjed ; MD^a ; Mounif El-Youssef ; MD^c ; Lizhi Zhang ; MD^a

关键词：Glycogen storage disease ; Novel GBE1 variant ; Liver biopsy ; Glycogen branching enzyme ; Hepatocyte inclusions

刊名：Human Pathology

出版年：2016

10.Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III

作者：Renate J. Verbeek^&lowast ; ; Christiaan P. Sentner^&dagger ; ; G. Peter A. Smit^&dagger ; ; Natasha M. Maurits^&lowast ; ; Terry G.J. Derks^&dagger ; ; Johannes H. van der Hoeven^&lowast ; ; Deborah A. Sival^&dagger ; ; ^{d.a.sival@umcg.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：Glycogen storage disease ; Muscle ultrasound density ; Muscle force ; Electromyography ; Myopathy ; Echogenicity ; Glycogen ; Child ; Adult

刊名：Ultrasound in Medicine & Biology

出版年：2016

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