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Elsevier电子期刊(55)

在“Elsevier电子期刊”中，命中：55条，耗时：0.0219904 秒

在所有数据库中总计命中：81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.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

7.Bone mineral density in MPS IV A (Morquio syndrome type A)

作者：Heidi H. Kecskemethy^a ; ^b ; ¹ ; ^{hkecskem@nemours.org" class="auth_mail" title="E-mail the corresponding author} ; Francyne Kubaski^b ; ^c ; ¹ ; H.T. Harcke^a ; ^d ; Shunji Tomatsu^b ; ^c

关键词：BMD ; bone mineral density ; CP ; cerebral palsy ; C6S ; chondroitin-6-sulfate ; DMD ; Duchenne muscular dystrophy ; DXA ; dual energy X-ray absorptiometry ; ECM ; extracellular matrix ; ERT ; enzyme replacement therapy ; F ; full-time ambulator ; GAGs ; glycosaminoglycans ; GALNS ; N-acetylgalactosamine-6-sulfate sulfatase ; HAZ ; height-adjusted Z-score ; HGMD ; The Human Gene Mutation Database ; KS ; keratan sulfate ; LDF ; lateral distal femur ; LS ; lumbar spine ; MPS IVA ; mucopolysaccharidosis type IV A ; NHANES ; Nation

刊名：Molecular Genetics and Metabolism

出版年：2016

8.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

9.Effect of CFTR modifiers on arylsulfatase B activity in cystic fibrosis and normal human bronchial epithelial cells

作者：Sumit Bhattacharyya^a ; ^b ; Leo Feferman^a ; ^b ; Joanne K. Tobacman^a ; ^b ; ^{jkt@uic.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Cystic fibrosis ; CFTR ; Arylsulfatase B ; Chondroitin 4-sulfate ; Glycosaminoglycans ; Corrector ; Potentiator ; Interleukin-8 ; Interleukin-6 ; Neutrophil migration

刊名：Pulmonary Pharmacology & Therapeutics

出版年：2016

10.Activity of daily living for Morquio A syndrome

作者：Eriko Yasuda^a ; ^b ; ¹ ; Yasuyuki Suzuki^c ; ¹ ; Tsutomu Shimada^d ; ¹ ; Kazuki Sawamoto^a ; William G. Mackenzie^a ; Mary C. Theroux^a ; Christian Pizarro^a ; Li Xie^a ; Freeman Miller^a ; Tariq Rahman^a ; Heidi H. Kecskemethy^a ; Kyoko Nagao^a ; Thierry Morlet^a ; Thomas H. Shaffer^a ; Yasutsugu Chinen^e ; Hiromasa Yabe^f ; Akemi Tanaka^g ; Haruo Shintaku^g ; Kenji E. Orii^h ; Koji O. Orii^h ; Robert W. Mason^a ; Adriana M. Montañ ; oⁱ ; ^j ; Toshiyuki Fukao^h ; Tadao Orii^h ; ^{orii.tadao@camel.plala.or.jp" class="auth_mail" title="E-mail the corresponding author} ; Shunji Tomatsu^a ; ^h ; ^{stomatsu@nemours.org" class="auth_mail" title="E-mail the corresponding author} ; ^{stomatsu@gifu-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：ADL ; activity of daily living ; AIDHC ; Alfred I. duPont Hospital for Children ; BMI ; body mass index ; C6S ; chondroitin-6-sulfate ; ERT ; enzyme replacement therapy ; GAG ; glycosaminoglycan ; GALNS ; N-acetylgalactosamine-6-sulfate sulfatase ; HSCT ; hematopoietic stem cell transplantation ; KS ; keratan sulfate ; LSD ; lysosomal storage disease ; MPS ; mucopolysaccharidoses ; MPS IVA ; mucopolysaccharidosis IVA

刊名：Molecular Genetics and Metabolism

出版年：2016

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