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Elsevier电子期刊(144)

在“Elsevier电子期刊”中，命中：144条，耗时：0.1109504 秒

在所有数据库中总计命中：188条

1.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

2.Blunted respiratory drive response in late onset Pompe disease

作者：Sergio G. Monteiro^a ; Eduardo L. De Vito^a ; ^b ; ^{eldevito@gmail.com}

刊名：Neuromuscular Disorders

出版年：2017

3.Long-term efficacy of alglucosidase alfa in late-onset Pompe disease

作者：Ans van der Ploeg^a ; Paula Clemens^b ; Robert J Hopkin^c ; Katherine Kacena^d ; Bernd-Jan Sanson^d ; Pascal Laforet^e

刊名：Molecular Genetics and Metabolism

出版年：2017

4.Late-onset Pompe disease with atypical presentation: What else is going on?

作者：Jaya Ganesh^a ; Maria I. Scarano^a ; Michael Hardiman^a ; Priya Kishnani^b

刊名：Molecular Genetics and Metabolism

出版年：2017

5.Investigation on acute effects of ERT and influence of clinical severity on physiological variables related to exercise tolerance in late onset Pompe disease

作者：Bruno Bembi^a ; Annalisa Sechi^a ; Desy Salvadego^b ; Dardis Andrea^a ; Silvia Cattarossi^a ; Grazia Devigili^a ; Reccardini Fabio^a ; Bruno Grassi^b

刊名：Molecular Genetics and Metabolism

出版年：2017

6.PRO instrument development for late-onset Pompe disease

作者：Alaa Hamed^a ; Andrew Stewart^a ; Milki Tilimo^a ; Robert Krupnick^b ; LeAnne Maddux^b ; Margaret Meyer^b

刊名：Molecular Genetics and Metabolism

出版年：2017

7.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

8.Hypothyroidism in late-onset Pompe disease

作者：Joseph Schneider^a ; ^b ; Lynn A. Burmeister^c ; Kyle Rudser^d ; Chester B. Whitley^a ; ^b ; ^e ; Jeanine Jarnes Utz^a ; ^b ; ^{utzx0002@umn.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Hypothyroidism ; Late-onset Pompe disease ; Acid α-glucosidase enzyme ; Glycogen

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

9.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

10.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

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