搜索页_+N-Acetylgalactosamine-4-sulfatase

设为首页

收藏本站

网站地图 | English | 公务邮箱

About the library

Background
History
Leadership
Organization

Readers' Guide

Opening Hours
Collections
Help Via Email

Publications

Electronic Information Resources

常用资源

在“Elsevier电子期刊”中，命中：86条，耗时：小于0.01 秒

在所有数据库中总计命中：15条

1.Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

作者：Ekram M. Fateen^a ; ^{efateen@yahoo.com} (Professor) ; Hanan Abd El Mawgoud^b ; ^{hananmoawad@gmail.com} (Assistant Professor) ; Noura R. Eissa^c ; ^{nr.eissa@yahoo.com} (Assistant Reseacher) ; Mona M. Ibrahim^a ; ^{monamahmoud60@yahoo.com} (Assistant Professor) ; Mona S. Aglan^d ; ^{drmona_aglan@yahoo.com} (Professor) ; Mona L. Essawi^c ; ^{mlessawi@yahoo.com} (Professor)

关键词：MPS IVA ; Mucopolysaccharidosis type 4 &ndashA ; GALNS ; N-acetylgalactosamine-6-sulfatase ; GAGs ; Glycosaminoglycans ; NRC ; National Research Centre ; MPSs ; Mucopolysaccharidoses ; GLB1 ; β-Galactosidase ; KS ; Keratan Sulfate ; C6S ; Chondroitin-6-Sulfate ; kDa ; Kilo Dalton ; HGMD ; Human Gene Mutation Database ; ERT ; Enzyme Replacement Therapy ; LMSDC ; Limb Malformation and Skeletal Deformities Clinic ; RFLP ; Restriction Fragment Length Polymorphism ; PCR ; Polymerase Chain Reaction ; mRNA ; messenger Ribonucleic

刊名：Gene

出版年：2017

2.Mucopolysaccharidosis IVA and glycosaminoglycans

作者：Shaukat Khan^a ; ¹ ; Carlos J. Almé ; ciga-Dí ; az^b ; ¹ ; Kazuki Sawamoto^a ; William G. Mackenzie^a ; Mary C. Theroux^a ; Christian Pizarro^a ; Robert W. Mason^a ; Tadao Orii^c ; Shunji Tomatsu^a ; ^c ; ^d ; ^{stomatsu@nemours.org} ; ^{stomatsu@gifu-u.ac.jp}

关键词：MPS ; mucopolysaccharidosis ; GAG ; glycosaminoglycans ; C6S ; chondroitin-6-sulfate ; KS ; keratin sulfate ; ECM ; extracellular matrix ; GALNS ; N-acetylgalactosamine 6-sulfate sulfatase ; LC-MS/MS ; liquid chromatography/tandem mass spectrometry ; LSD ; lysosomal storage disorder ; DBS ; dried blood spot ; DMB ; dimethylmethylene blue ; ERT ; enzyme replacement therapy ; 6MWT ; 6 ; min walk test ; 3MSCT ; 3 ; min stair climb test ; ADL ; activity of daily living ; HSCT ; Hematopoietic Stem Cell Therapy ; BMT ; bone m

刊名：Molecular Genetics and Metabolism

出版年：2017

3.Antibodies that neutralize cellular uptake of elosulfase alfa are not associated with reduced efficacy or pharmacodynamic effect in individuals with Morquio A syndrome

作者：Andrew C. Melton ; ^{AMelton@bmrn.com} ; Russell K. Soon Jr. ; Troy Tompkins ; Brian Long ; Becky Schweighardt ; Yulan Qi ; Catherine Vitelli ; Anil Bagri ; Celeste Decker ; Charles A. O'Neill ; Stephen J. Zoog ; Lynne Jesaitis

关键词：TAb ; total antibody ; NAb ; neutralizing antibody ; LSD ; lysosomal storage diseases ; GAGs ; glycosaminoglycans ; ERTs ; enzyme replacement therapies ; rhGALNS ; recombinant human N-acetylgalactosamine-6-sulfatase ; 6MWT ; six minute walk test ; 3MSC ; three minute stair climb ; MVV ; maximum voluntary ventilation ; uKS ; urine keratan sulfate ; M6P ; mannose-6-phosphate ; CI-M6PR ; cation-independent mannose-6-phosphate receptor ; TQC ; titer quality control ; LQC ; low quality control ; HQC ; high quality control ; NPS

刊名：Journal of Immunological Methods

出版年：2017

4.Human recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in a glycoengineered Escherichia coli strain

作者：Carlos J Almeciga-DIaz^a ; Luisa N Pimentel-Vera^a ; Alexander Rodriguez-Lopez^a ; Angela Espejo-Mojica^a ; Aura M Ramirez^a ; Carolina Cardona^a ; Luis H Reyes^a ; Matthew P DeLisa^b ; Oscar F Sanchez^c

刊名：Molecular Genetics and Metabolism

出版年：2017

5.Cell uptake evaluation of human recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in Pichia pastoris

刊名：Molecular Genetics and Metabolism

出版年：2017

6.Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6 months of therapy in cats using different IV infusion durations

作者：Therese Ruane^a ; Mark Haskins^a ; Alphonsus Cheng^d ; Ping Wang^a ; Gustavo Aguirre^b ; Van W. (Rafe) Knox IV^c ; Yulan Qi^d ; Troy Tompkins^d ; Charles A. O'Neill^d ; ^{CO'Neill@bmrn.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Mucopolysaccharidosis VI ; Maroteaux&ndash ; Lamy syndrome ; Galsulfase ; Recombinant human N-acetylgalactosamine 4-sulfatase ; Enzyme replacement therapy ; Infusion duration

刊名：Molecular Genetics and Metabolism

出版年：2016

7.Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI

作者：Arun Babu Kumar^a ; Zdenek Spacil^a ; Farideh Ghomashchi^a ; Sophia Masi^a ; Tomomi Sumida^d ; Makoto Ito^d ; Frantisek Turecek^a ; C. Ronald Scott^b ; Michael H. Gelb^a ; ^c ; ^{gelb@chem.washington.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：ARSB ; arylsulfatase B ; DBS ; dried blood spots on newborn screening cards ; GALNS ; N-acetylgalactosamine-6-sulfatase ; 4MU ; 4-methyl-umbelliferyl ; 4MU-Gal-6-S ; β-4MU glycoside of galactose-6-sulfate ; 4MU-GalNAc-4/6-S ; β-4MU glycoside of N-acetylgalactosamine-4/6-sulfate ; MPS IVA/VI ; mucopolysaccharidosis IVA/VI ; NBS ; newborn screening ; β-NGA ; β-N-acetylgalactosaminidase

刊名：Clinica Chimica Acta

出版年：2015

8.Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

作者：Hsiang-Yu Lin^a ; ^b ; ^c ; ^d ; ^e ; Chih-Kuang Chuang^c ; ^f ; ^g ; Chung-Hsing Wang^h ; Yin-Hsiu Chienⁱ ; Yu-Mei Wang^j ; Fuu-Jen Tsai^h ; Yen-Yin Chou^k ; Shio Jean Lin^l ; Hui-Ping Pan^m ; Dau-Ming Niu^e ; ⁿ ; Wuh-Liang Hwuⁱ ; Yu-Yuan Ke^o ; Shuan-Pei Lin^a ; ^b ; ^c ; ^p ; ^{4535lin@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：MPS ; mucopolysaccharidosis ; ASB ; N-acetylgalactosamine 4-sulfatase ; GAG ; glycosaminoglycan ; ERT ; enzyme replacement therapy ; Galsulfase ; recombinant human N-acetylgalactosamine 4-sulfatase ; Z score ; standard deviation score ; 6MWT ; 6-minute walk test ; 3MSCT ; 3-minute stair climb test ; FVC ; Forced vital capacity ; FEV1 ; forced expiratory volume in 1 s ; E/A ; ratio between early and late (atrial) ventricular filling velocity ; LVMI ; left ventricular mass index ; IVSd ; interventricular septum thick

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

9.Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

作者：Christian J. Hendriksz^a ; ^{chris.hendriksz@srft.nhs.uk" class="auth_mail" title="E-mail the corresponding author} ; Rossella Parini^b ; Moeenaldeen D. AlSayed^c ; Julian Raiman^d ; Roberto Giugliani^e ; Martha L. Solano Villarreal^f ; John J. Mitchell^g ; Barbara K. Burton^h ; Norberto Guelbertⁱ ; Fiona Stewart^j ; Derralynn A. Hughes^k ; Kenneth I. Berger^l ; Peter Slasor^m ; Robert Matousek^m ; Elaina Jurecki^m ; Adam J. Shaywitz^m ; Paul R. Harmatzⁿ

关键词：3MSCT ; 3-minute stair climb test ; 6MWT ; 6-minute walk test ; AE ; adverse event ; ERT ; enzyme replacement therapy ; GALNS ; enzyme N-acetylgalactosamine-6-sulfatase ; IAR ; infusion-associated reaction ; IgE ; immunoglobulin E ; ITT ; intent-to-treat ; KS ; keratan sulfate ; MPP ; modified per-protocol ; MorCAP ; Morquio A Clinical Assessment Program ; NAb ; neutralizing antibody ; PBO ; placebo ; QOW ; every other week ; QW ; once weekly ; SAE ; serious adverse event ; TAb ; total antibody ; uKS ; urine keratan sulfate

刊名：Molecular Genetics and Metabolism

出版年：2016

10.Obstructive airway in Morquio A syndrome, the past, the present and the future

作者：Shunji Tomatsu^a ; ¹ ; ^{stomatsu@nemours.org" class="auth_mail" title="E-mail the corresponding author} ; Lauren W. Averill^a ; ¹ ; Kazuki Sawamoto^a ; William G. Mackenzie^a ; Michael B. Bober^a ; Christian Pizarro^a ; Christopher J. Goff^a ; Li Xie^a ; Tadao Orii^b ; Mary Theroux^a ; ² ; ^{Mary.Theroux@nemours.org" class="auth_mail" title="E-mail the corresponding author}

关键词：C6S ; chondroitin-6-sulfate ; ECM ; extracellular matrix ; ERT ; enzyme replacement therapy ; GALNS ; N-acetylgalactosamine-6-sulfate sulfatase ; KS ; keratan sulfate ; MR images ; Magnetic resonance images ; MRI ; Magnetic resonance imaging

刊名：Molecular Genetics and Metabolism

出版年：2016

按检索点细分(86)

题名(31)

关键词(31)

文摘(54)

按出版年细分(86)

2027年及以后(3)

2017年(5)

2016年(8)

2015年(1)

2013年(11)

2012年(11)

2011年(5)

2010年(3)

2009年(3)

2008年(7)

2007年(8)

2006年(3)

2005年(1)

2004年(1)

2003年(1)

2001年(1)

2000年(1)

2000年及以前(13)