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Elsevier电子期刊(33)

在“Elsevier电子期刊”中，命中：33条，耗时：小于0.01 秒

在所有数据库中总计命中：33条

1.Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency

作者：Benjamin L. Farah¹ ; Dustin J. Landau² ; Rohit A. Sinha¹ ; Elizabeth D. Brooks² ; ³ ; Yajun Wu⁴ ; Suet Yin Sarah Fung⁵ ; Tomohiro Tanaka⁶ ; Masahiro Hirayama⁶ ; Boon-Huat Bay⁴ ; Dwight D. Koeberl² ; ⁷ ; ^{dwight.koeberl@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Paul M. Yen¹ ; ⁸ ; ^{paul.yen@duke-nus.edu.sg" class="auth_mail" title="E-mail the corresponding author}

关键词：G6Pase α ; glucose-6-phosphatase α ; G6PC ; glucose-6-phosphatase α catalytic subunit ; GSDIa ; glycogen storage disease type Ia ; G6P ; glucose-6-phosphate ; mTOR ; mammalian target of rapamycin ; AMPK ; 5&rsquo ; AMP-activated protein kinase ; ULK1 ; Unc51-like kinase 1 ; NAFLD ; non-alcoholic fatty liver disease ; GSDII ; glycogen storage disease type II ; LC3 ; microtubule-associated protein 1A/1B-light chain 3 ; C-C3 ; cleaved caspase 3 ; Rap ; rapamycin ; AAV ; adeno-associated virus ; GFP ; green fluorescent protein

刊名：Journal of Hepatology

出版年：2016

2.Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease

作者：Barbara Perniconi^a ; ^{b.perniconi@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author} ; Daniele Vauthier-Brouzes^b ; Capucine Moré ; lot-Panzini^c ; Marc Dommergues^b ; Jacky Nizard^b ; ^d ; Nadjib Taouagh^a ; Jean-Yves Hogrel^a ; Auré ; lie Canal^a ; Laurent Servais^a ; Pascal Laforê ; t^e

关键词：Glycogen Storage Disease type II (GSDII) ; Pompe disease ; Enzyme replacement therapy (ERT)

刊名：Neuromuscular Disorders

出版年：2016

3.Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis

关键词：GDE ; Glycogen debranching enzyme ; BMD ; bone mineral density ; DXA ; dual-emission-X-ray absorptiometry ; QUS ; quantitative ultrasound ; OC ; osteocalcin ; CTX ; C-terminal cross-linking telopeptide of type I collagen ; IPAQ ; International Physical Activity Questionnaire

刊名：Bone

出版年：2016

4.Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III

作者：Valé ; rie Decostre^a ; ^{v.decostre@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author} ; Pascal Laforê ; t^b ; ^c ; Aleksandra Nadaj-Pakleza^d ; Marie De Antonio^e ; Sylvain Leveugle^e ; Gwenn Ollivier^a ; Auré ; lie Canal^a ; Kahina Kachetel^b ; Franç ; ois Petit^f ; Bruno Eymard^b ; Anthony Behin^b ; Karim Wahbi^a ; ^g ; Philippe Labrune^h ; ⁱ ; Jean-Yves Hogrel^a

关键词：Glycogen storage disease type III ; Debranching enzyme deficiency ; Metabolic myopathy ; Outcome measures

刊名：Neuromuscular Disorders

出版年：2016

5.ID 446 - Fatigue in muscular dystrophy and metabolic myopathy

作者：C. Angelini ; E. Tasca

刊名：Clinical Neurophysiology

出版年：2016

6.Fatigue in muscular dystrophy and metabolic myopathy

作者：C. Angelini ; E. Tasca

刊名：Clinical Neurophysiology

出版年：2016

7.Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients

作者：Gauthier Remiche^a ; ^b ; ¹ ; ^{gauthier.remiche@erasme.ulb.ac.be} ; ^{garemiche@yahoo.fr} ; Antonella Lo Mauro^c ; ¹ ; Paolo Tarsia^d ; Dario Ronchi^e ; Andreina Bordoni^e ; Francesca Magri^e ; Giacomo P. Comi^e ; Andrea Aliverti^c ; Maria Grazia D&rsquo ; Angelo^f

关键词：Glycogen Storage Disease Type II (GSDII) ; Diaphragmatic weakness ; Respiratory muscles ; Postural effects ; Spirometry

刊名：Respiratory Physiology & Neurobiology

出版年：2013

8.The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-伪-glucosidase in Pompe's iPSCs

作者：Takashi Higuchi^a ; ^b ; Shiho Kawagoe^a ; ^c ; Makoto Otsu^d ; Yohta Shimada^b ; Hiroshi Kobayashi^a ; ^b ; ^e ; Reimi Hirayama^a ; ^f ; Koji Eto^g ; Hiroyuki Ida^a ; ^b ; ^e ; Toya Ohashi^a ; ^b ; ^e ; Hiromitsu Nakauchi^d ; Yoshikatsu Eto^a ; ^f ; ^{yosh@sepia.ocn.ne.jp" class="auth_mail}

关键词：PD ; Pompe disease ; GSDII ; glycogen storage disease type II ; GAA ; acid-伪-glycosidase ; LSD ; lysosomal storage disease ; ERT ; enzyme replacement therapy ; iPSC ; induced pluripotent stem cell ; PAS ; Periodic-acid-Schiff ; ALP ; alkaline phosphates ; TEM ; transmission electron microscope

刊名：Molecular Genetics and Metabolism

出版年：May 2014

9.Detection of c. ? 32T>G (IVS1 ? 13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen

作者：Joaquin Bobillo Lobato^a ; Blas A. Sá ; nchez Peral^b ; Pilar Durá ; n Parejo^a ; Luis M. Jimé ; nez Jimé ; nez^a ; ^{lmjimenezj@telefonica.net}

关键词：GAA ; acid alpha-glucosidase ; PCR ; polymerase chain reaction ; DBS ; dried blood spots ; GSDII ; glycogen storage disease type II

刊名：Clinica Chimica Acta

出版年：2013

10.Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease

作者：Mats I. Nilsson^a ; Imtiaz A. Samjoo^a ; Bart P. Hettinga^a ; Dwight D. Koeberl^c ; Haoyue Zhang^c ; Thomas J. Hawke^b ; Aliyah A. Nissar^b ; Tahir Ali^a ; Linda Brandt^a ; Mohammad U. Ansari^a ; Hassan Hazari^a ; Neha Patel^a ; Jaihoon Amon^a ; Mark A. Tarnopolsky^a ; ^{tarnopol@mcmaster.ca}

关键词：GAA ; acid ¦Á-glucosidase ; rhGAA ; recombinant human alglucosidase alfa ; ERT ; enzyme replacement therapy ; GSDII ; glycogen storage disease type II ; CI-MPR ; cation-independent mannose-6-phosphate receptor ; PGC-1¦Á ; peroxisome proliferator-activated receptor g

刊名：Molecular Genetics and Metabolism

出版年：2012

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