搜索页_ Acid α-glucosidase (GAA)

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在“Elsevier电子期刊”中，命中：8条，耗时：0.057973 秒

在所有数据库中总计命中：14条

1.Production and characterization of recombinant human acid α-glucosidase in transgenic rice cell suspension culture

作者：Jae-Wan Jung^a ; ^b ; ¹ ; Nan-Sun Kim^a ; ¹ ; Seon-Hui Jang^a ; Yun-Ji Shin^a ; Moon-Sik Yang^a ; ^b ; ^{mskyang@jbnu.ac.kr" class="auth_mail" title="E-mail the corresponding author}

关键词：Pompe disease ; Acid α-glucosidase (GAA) ; Rice α-amylase 3D (RAmy3D) promoter ; Agrobacterium tumefaciens ; Transgenic rice cell suspension culture

刊名：Journal of Biotechnology

出版年：2016

2.A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease

作者：Sang-oh Han^a ; Rand Pope^b ; Songtao Li^a ; Priya S. Kishnani^a ; Richard Steet^b ; ; Dwight D. Koeberl^a ;

关键词：Lysosomal storage disorder (LSD) ; Pompe disease ; Acid α-glucosidase (GAA) ; Enzyme replacement therapy (ERT) ; β-Blocker ; Propranolol

刊名：Molecular Genetics and Metabolism

出版年：2016

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.Triplex tandem mass spectrometry assays for the screening of 3 lysosomal storage disorders in a Korean population

作者：Sung Eun Cho^a ; Joung Ryull Kwak^a ; Hyojung Lee^a ; Dong Hee Seo^a ; Junghan Song^b ; ^c ; ^{songjhcp@snu.ac.kr" class="auth_mail" title="E-mail the corresponding author}

关键词：GAA ; acid α-glucosidase (Pompe disease) ; GLA ; acid α-galactosidase (Fabry disease) ; GBA ; acid β-glucocerebrosidase (Gaucher disease) ; CDC ; Centers for Disease Control and Prevention ; MRM ; multiple reaction monitoring ; S ; substrate

刊名：Clinica Chimica Acta

出版年：2016

5.Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

作者：Haiqing Yi ; Fengqin Gao ; Stephanie Austin ; Priya S Kishnani ; ^{kishn001@mc.duke.edu} ; Baodong Sun ; ^{baodong.sun@duke.edu}

关键词：GSD IV ; glycogen storage disease type IV ; GAA ; acid α-glucosidase ; GBE ; glycogen branching enzyme ; ERT ; enzyme replacement therapy ; M6PR ; mannose-6-phosphate receptor ; AST ; aspartate aminotransferase ; ALT ; alanine aminotransferase

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

6.Gene expression profiles of autophagy-related genes in multiple sclerosis

作者：Mehri Igci^a ; ^{mehriigci@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; ^{mehriigci@gantep.edu.tr" class="auth_mail" title="E-mail the corresponding author} ; Mehmet Baysan^b ; Remzi Yigiter^c ; Mustafa Ulasli^a ; Sirma Geyik^c ; Recep Bayraktar^a ; İbrahim Bozgeyik^a ; Esra Bozgeyik^a ; Ali Bayram^d ; Ecir Ali Cakmak^a

关键词：AMBRA1 ; activating molecule in Beclin-1-regulated autophagy protein 1 ; APP ; amyloid precursor protein ; ATG ; autophagy genes ; cDNA ; complementary DNA ; DAPK ; death-associated protein kinase ; dNTP ; deoxyribonucleic acid ; DRAM1 ; DNA damage-regulated autophagy modulator1 ; EIF2AK3 ; eukaryotic translation initiation factor 2α kinase 3 ; ESCRT ; endosomal sorting complex required for transport ; GAA ; alpha-glucosidase ; Hgs ; hepatocyte growth factor-regulated tyrosine kinase substrate ; Htt ; Huntingtin ; LAMP

刊名：Gene

出版年：2016

7.Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

作者：Susan Elliott^a ; Norman Buroker^a ; Jason J. Cournoyer^b ; Anna M. Potier^b ; Joseph D. Trometer^b ; Carole Elbin^b ; Mack J. Schermer^b ; Jaana Kantola^e ; Aaron Boyce^a ; Frantisek Turecek^c ; Michael H. Gelb^c ; ^d ; ^{gelb@uw.edu" class="auth_mail" title="E-mail the corresponding author} ; C. Ronald Scott^a ; ^{crscott@u.washington.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：DBS ; Dried blood spot on a newborn screening card ; GAA ; Acid α-glucosidase ; GALC ; Galactocerebrosidase ; GBA ; Glucocerebrosidase ; GLA ; α-Galactosidase A ; IDUA ; α-Iduronidase ; MPS-I ; Mucopolysaccharidosis-I ; MS/MS ; Tandem mass spectrometry ; MRM ; Multiple reaction monitoring ; NBS ; Newborn screening ; SMPD1 ; Sphingomyelin phosphodiesterase-1

刊名：Molecular Genetics and Metabolism

出版年：2016

8.EP 42. Smooth muscle involvement in Glycogenosis Type II: Thalamus hemorrhage, increased blood flow and dolichoectasia in a late-onset Pompe patient

作者：O. Hensel ; I. Schneider ; S. Zierz

刊名：Clinical Neurophysiology

出版年：2016

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