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Elsevier电子期刊(51)

在“Elsevier电子期刊”中，命中：51条，耗时：小于0.01 秒

在所有数据库中总计命中：51条

1.The effects of sub-maximal aerobic exercise in adults with late-onset Pompe disease (LOPD)

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining

作者：Harrison N. Jones^a ; ^{harrison.jones@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Kelly D. Crisp^b ; ^{kelly.crisp@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Randall R. Robey^c ; ^{rrr7w@eservices.virginia.edu" class="auth_mail" title="E-mail the corresponding author} ; Laura E. Case^d ; ^{laura.case@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Richard M. Kravitz^e ; ^{richard.kravitz@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Priya S. Kishnani^f ; ^{priya.kishnani@duke.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Glycogen storage disease type II ; Skeletal muscle ; Exercise ; Rehabilitation ; Breathing exercises

刊名：Molecular Genetics and Metabolism

出版年：2016

3.Patients' perspectives on newborn screening for later-onset lysosomal storage diseases

作者：Emily C. Lisi ; MS^a ; ¹ ; ^{lisi.emily@mayo.edu" class="auth_mail" title="E-mail the corresponding author} ; Scott Gillespie ; MS^b ; ^{scott.gillespie@emory.edu" class="auth_mail" title="E-mail the corresponding author} ; Dawn Laney ; MS^a ; ^{dawn.laney@emory.edu" class="auth_mail" title="E-mail the corresponding author} ; Nadia Ali ; PhD^a ; ^{nadia.ali@emory.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：LSDs ; lysosomal storage diseases ; FD ; Fabry disease ; GD ; Gaucher disease ; LOPD ; late onset Pompe disease ; MPS ; mucopolysaccharidosis ; NBSP ; newborn screening perception questionnaire ; BIPQ ; brief illness perception questionnaire

刊名：Molecular Genetics and Metabolism

出版年：2016

4.Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years

作者：Karolina M. Stepien^a ; ^{kstepien@doctors.org.uk" class="auth_mail" title="E-mail the corresponding author} ; Christian J. Hendriksz^a ; ^b ; Mark Roberts^c ; Reena Sharma^a

关键词：Late-onset Pompe disease ; LOPD ; Enzyme replacement therapy ; Alpha glucosidase deficiency ; Myozyme

刊名：Molecular Genetics and Metabolism

出版年：2016

5.The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa

作者：Rena C. Baek ; Rachel Palmer ; Robert J. Pomponio ; Yuefeng Lu ; Xiwen Ma ; Alison J. McVie-Wylie ; ^{alison.mcvie-wylie@genzyme.com" class="auth_mail" title="E-mail the corresponding author}

关键词：6MWT ; 6-Minute Walk Test ; ACE ; angiotensin-converting enzyme ; D ; deletion ; ERT ; enzyme replacement therapy ; FVC ; forced vital capacity ; GAA ; acid-alpha glucosidase ; I ; insertion ; IOPD ; infantile-onset Pompe disease ; LOPD ; late-onset Pompe disease ; LOTS ; Late-Onset Treatment Study ; MRI ; magnetic resonance imaging ; PCR ; polymerase chain reaction ; QMT ; quantitative muscle testing

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

6.Analysis of the genetic variability in Parkinson's disease from Southern Spain

作者：Sara Bandré ; s-Ciga^a ; Niccolò ; Emmanuele Mencacci^b ; Raquel Durá ; n^a ; Francisco Javier Barrero^c ; Francisco Escamilla-Sevilla^d ; Sarah Morgan^b ; Jason Hehir^b ; Francisco Vives^a ; John Hardy^b ; Alan M. Pittman^b ; ^{a.pittman@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：Parkinson's disease ; Genetics ; Mutations ; Southern Spain population ; Next-generation sequencing

刊名：Neurobiology of Aging

出版年：2016

7.Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

作者：Ans van der Ploeg^a ; Pierre G. Carlier^b ; Robert-Yves Carlier^c ; John T. Kissel^d ; Benedikt Schoser^e ; Stephan Wenninger^e ; Alan Pestronk^f ; Richard J. Barohn^g ; Mazen M. Dimachkie^g ; Ozlem Goker-Alpan^h ; Tahseen Mozaffarⁱ ; Loren D.M. Pena^j ; Zachary Simmons^k ; Volker Straub^l ; Michela Guglieri^l ; Peter Young^m ; Matthias Boentert^m ; Pierre-Yves Baudinⁿ ; Stephan Wens^a ; Raheel Shafi^o ; Carl Bjartmar^o ; Beth L. Thurberg^o ; ^{Beth.Thurberg@genzyme.com" class="auth_mail" title="E-mail the corresponding author}

关键词：6MWT ; 6-Minute Walk Test ; AE ; adverse event ; BMI ; body mass index ; CI ; confidence interval ; ERT ; enzyme replacement therapy ; FVC ; forced vital capacity ; GAA ; α-glucosidase ; HRLM ; high-resolution light microscopy ; PFT ; pulmonary function testing ; GMFCS-E&R ; Gross Motor Functional Classification System&ndash ; Expanded and Revised ; GMFM-88 ; Gross Motor Function Measure-88 ; GSGC ; Gait ; Stair ; Gower's Maneuver ; and Chair ; LOTS ; Late-Onset Treatment Study ; MRI ; magnetic resonance imaging ; PedsQL ; Pedia

刊名：Molecular Genetics and Metabolism

出版年：2016

8.Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease

作者：Erin M. Johnson^a ; ^{ejohnson@bmrn.com" class="auth_mail" title="E-mail the corresponding author} ; Mark Roberts^b ; Tahseen Mozaffar^c ; Peter Young^d ; Adrian Quartel^a ; Kenneth I. Berger^e

关键词：Late-Onset Pompe disease ; Inspiratory pressure ; Vital capacity ; Ventilator ; Ventilation ; Wheelchair test

刊名：Neuromuscular Disorders

出版年：2016

9.Progression from respiratory dysfunction to failure in late-onset Pompe disease

作者：Kenneth I. Berger^a ; ^b ; ^{Kenneth.Berger@nyumc.org" class="auth_mail" title="E-mail the corresponding author} ; Yinny Chan^a ; ^b ; William N. Rom^a ; Beno W. Oppenheimer^a ; ^b ; Roberta M. Goldring^a ; ^b

关键词：Late-onset Pompe disease ; Respiratory failure ; Vital capacity ; Maximum inspiratory pressure ; Hypercapnia ; Respiratory control

刊名：Neuromuscular Disorders

出版年：2016

10.Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease

作者：M.I. Nilsson^a ; L.G. MacNeil^a ; Y. Kitaoka^a ; R. Suri^a ; S.P. Young^b ; J.J. Kaczor^c ; N.J. Nates^a ; M.U. Ansari^a ; T. Wong^a ; M. Ahktar^a ; L. Brandt^a ; B.P. Hettinga^a ; M.A. Tarnopolsky^a ; ^{tarnopol@mcmaster.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：A ; adult ; AET ; aerobic exercise training ; AUC ; area under the curve ; CI-MPR ; cation-independent mannose-6-phosphate receptor ; CLEAR ; coordinated lysosomal expression and regulation transcriptome ; ERT ; enzyme replacement therapy ; FA ; fatty acid ; FG ; fast-twitch glycolytic muscle fibers ; FOG ; fast-twitch oxidative/glycolytic muscle fibers ; GAA ; acid 伪-glucosidase ; GSD II ; glycogen storage disease type II ; I ; infantile ; IOPD ; infantile-onset Pompe disease ; LOPD ; late-onset Pompe disease ; LSD ; lysos

刊名：Free Radical Biology and Medicine

出版年：2015

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