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Elsevier电子期刊(86)

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：118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

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