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Elsevier电子期刊(59)

在“Elsevier电子期刊”中，命中：59条，耗时：0.0959537 秒

在所有数据库中总计命中：80条

1.Early initiation of prophylactic immune tolerance induction and enzyme replacement therapy in prenatally diagnosed infantile onset Pompe disease with a CRIM-negative mutation

作者：Punita Gupta^a ; Brian Shayota^a ; Alejandra Gomez^a ; Lorien Tambini-King^a ; Zoheb Kazi^b ; Priya S. Kishnani^b

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Generation of infantile- and late-onset Pompe disease models using CRISPR-Cas9 genome editing

刊名：Molecular Genetics and Metabolism

出版年：2017

3.Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes

作者：Chia-Feng Yang ; MD¹ ; ² ; Chen Chang Yang ; PhD² ; ³ ; Hsuan-Chieh Liao ; MSc⁴ ; ⁵ ; Ling-Yi Huang ; RN⁶ ; Chuan-Chi Chiang ; PhD⁴ ; Hui-Chen Ho ; BS⁷ ; Chih-Jou Lai ; MD⁸ ; Tzu-Hung Chu ; MD¹ ; Tsui-Feng Yang ; MD⁸ ; Ting-Rong Hsu ; MD¹ ; Wen-Jue Soong ; PhD¹ ; Dau-Ming Niu ; MD¹ ; ⁹ ; ^{dmniu1111@yahoo.com.tw" class="auth_mail" title="E-mail the corresponding author}

关键词：AST ; Aspartate aminotransferase ; Bayley-III ; Bayley Scale of Infant and Toddler Development ; Third Edition ; CK ; Creatine kinase ; CRIM ; Cross-reactive immunologic ; ERT ; Enzyme-replacement therapy ; GAA ; Acid α-glucosidase ; IOPD ; Infantile-onset Pompe disease ; LDH ; Lactate dehydrogenase ; LVMI ; Left ventricular mass index ; PDMS-II ; Peabody Development Motor Scale ; Second Edition ; TVGH ; Taipei Veterans General Hospital

刊名：The Journal of Pediatrics

出版年：2016

4.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

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.Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

作者：Takashi Matsuoka^a ; Yoshiyuki Miwa^a ; Makiko Tajika^a ; Madoka Sawada^a ; Koichiro Fujimaki^a ; Takashi Soga^a ; Hideshi Tomita^b ; Shigeru Uemura^b ; Ichizo Nishino^c ; Tokiko Fukuda^d ; Hideo Sugie^e ; Motomichi Kosuga^f ; ^{kosuga-mo@ncchd.go.jp} ; Torayuki Okuyama^g ; Yoh Umeda^a

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

7.Weekly enzyme replacement therapy: a French patient with infantile onset Pompe disease

作者：Nathalie Guffon ; Alain Fouilhoux

刊名：Molecular Genetics and Metabolism

出版年：2016

8.Enzyme replacement therapy rate escalation in infantile onset Pompe disease

作者：Crista K. Walters ; Priya S. Kishnani

刊名：Molecular Genetics and Metabolism

出版年：2016

9.Slowly progressive myopathy in neonatal-treated patients with infantile-onset Pompe disease: A longitudinal prospective muscle MRI cohort study

作者：Yin-Hsiu Chien ; Wuh-Liang Hwu ; Steven Shinn-Forng Peng

刊名：Molecular Genetics and Metabolism

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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