搜索页_Pompe+disease

设为首页

收藏本站

网站地图 | English | 公务邮箱

About the library

Background
History
Leadership
Organization

Readers' Guide

Opening Hours
Collections
Help Via Email

Publications

Electronic Information Resources

外文资源

Wiley电子期刊(11)	SpringerLink电子期刊(192)	Elsevier电子期刊(685)
Springer电子图书(6)	NATURE电子期刊(2)	ACS电子期刊(7)

在“Elsevier电子期刊”中，命中：685条，耗时：0.0609637 秒

在所有数据库中总计命中：903条

1.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

2.Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity

作者：Barbara K. Smith^a ; ^b ; ^{bksmith@phhp.ufl.edu" class="auth_mail" title="E-mail the corresponding author} ; A. Daniel Martin^a ; Lee Ann Lawson^b ; Valerie Vernot^c ; Jordan Marcus^e ; Saleem Islam^d ; Nadeem Shafi^f ; Manuela Corti^b ; Shelley W. Collins^b ; Barry J. Byrne^b

关键词：ERT ; Enzyme replacement therapy ; GAA ; α-glucosidase ; IMST ; Inspiratory muscle strength training ; LC ; Load compensation ; MIP ; Maximal inspiratory pressure ; MRI ; Magnetic resonance imaging ; MV ; Mechanical ventilation

刊名：Experimental Neurology

出版年：2017

3.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

4.Impact of earlier treatment on respiratory function in patients with late-onset Pompe disease: data from the Pompe Registry

作者：David W Stockton^a ; Kenneth I Berger^b ; ^c ; Matthias Boentert^d ; Barry Byrne^e ; Priya S Kishnani^f ; Juan C Llerena Jr^g ; Mark Roberts^h ; Sonia Marutiⁱ ; Roberto Araujoⁱ

刊名：Molecular Genetics and Metabolism

出版年：2017

5.Sequence variants and genotypes among 898 patients with Pompe disease: data from the Pompe Registry

作者：Priya S. Kishnani^a ; Mary Alice Abbott^b ; Yin-Hsiu Chien^c ; Paula R. Clemens^d ; Virginia E. Kimonis^e ; Nancy Leslie^f ; Juan C. Llerena Jr^g ; Antonio Toscano^h ; Ans T. van der Ploegⁱ ; Sonia Maruti^j ; Bernd-Jan Sanson^j ; Arnold Reuser^k

刊名：Molecular Genetics and Metabolism

出版年：2017

6.Stroke in Young—Dilative Arteriopathy: A Clue to Late-Onset Pompe's Disease?

作者：Vikram Huded ; DM ; ^{drvikramhuded@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Vikram Bohra ; DM ; Jignesh Prajapati ; MD ; Romnesh DeSouza ; DNB ; Ritesh Ramankutty ; DM

关键词：Stroke in young ; Pompe's disease ; dilative arteriopathy ; dolichoectasia

刊名：Journal of Stroke and Cerebrovascular Diseases

出版年：2016

7.State-wide newborn screening for four lysosomal diseases reveals high incidence rate for Pompe and Fabry diseases

刊名：Molecular Genetics and Metabolism

出版年：2017

8.Risk assessments in infants suspect having later-onset Pompe disease identified through newborn screening

作者：Yin-Hsiu Chien ; Pin-Wen Chen ; Ping-Chun Wang ; Shu-Chuan Chiang ; Wuh-Liang Hwu

刊名：Molecular Genetics and Metabolism

出版年：2017

9.Outside the fiber: interstitial pathology of skeletal muscle in infantile Pompe disease

作者：Christine I. Ha ; Ankit K. Desai ; Justin Waterfield ; Zoheb B. Kazi ; Stephanie L. Austin ; Edward H. Bossen ; Priya S. Kishnani ; Anne F. Buckley

刊名：Molecular Genetics and Metabolism

出版年：2017

10.The Pennsylvania newborn screening experience for Pompe disease

作者：Nadene D. Henderson^a ; Can Ficicioglu^b ; Damara Ortiz^a ; Rebecca Ahrens-Nicklas^b ; Patricia Gordon^c ; Lynne Ieradi-Curto^b ; Sanmati Cuddapah^b ; Areeg El-Gharbawy^a ; Uta Lichter-Konecki^a ; Jessica Sebastien^a ; Stephanie Byers^b ; Steven Dobrowolski^a ; Leigh Ann Higa^b ; Gerard Vockley^a ; Lani Culley^d

刊名：Molecular Genetics and Metabolism

出版年：2017

按检索点细分(685)

题名(508)

作者(1)

关键词(150)

文摘(240)

按出版年细分(685)

2027年及以后(29)

2017年(33)

2016年(60)

2015年(27)

2013年(55)

2012年(65)

2011年(114)

2010年(55)

2009年(46)

2008年(61)

2007年(52)

2006年(24)

2005年(10)

2004年(9)

2003年(8)

2002年(5)

2001年(1)

2000年(6)

2000年及以前(25)