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在“Elsevier电子期刊”中，命中：55条，耗时：小于0.01 秒

在所有数据库中总计命中：34条

1.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

2.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

3.Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study

作者：Brian Long ; PhD¹ ; ^{Brian.Long@bmrn.com} ; Troy Tompkins ; BS¹ ; Celeste Decker ; MD¹ ; Lynne Jesaitis ; PhD¹ ; Shahid Khan ; MBBS¹ ; Peter Slasor ; ScD¹ ; Paul Harmatz ; MD² ; Charles A. O&rsquo ; Neill ; PhD¹ ; Becky Schweighardt ; PhD¹

关键词：elosulfase alfa ; immunogenicity ; Morquio A ; mucopolysaccharidosis IVA ; Vimizim

刊名：Clinical Therapeutics

出版年：2017

4.Arterial tortuosity is a new clinical feature in patients with mucopolysaccharidosis type IVA

刊名：Molecular Genetics and Metabolism

出版年：2017

5.In vitro and in vivo activity of IVA336, a potential substrate reduction therapy, in mucopolysaccharidosis models

刊名：Molecular Genetics and Metabolism

出版年：2017

6.Carotid intima-media thickness and arterial stiffness are altered in patients with mucopolysaccharidosis type IVA

刊名：Molecular Genetics and Metabolism

出版年：2017

7.Atypical presentation of mucopolysaccharidosis type IVA

作者：Eric T. Rush ; ^{erush@unmc.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Mucopolysaccharidosis ; Morquio syndrome ; Whole exome sequencing ; Glycosaminoglycans

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

8.UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

作者：Christiane Auray-Blais^a ; ^{christiane.auray-blais@usherbrooke.ca" class="auth_mail" title="E-mail the corresponding author} ; Pamela Lavoie^a ; Shunji Tomatsu^b ; Vassili Valayannopoulos^c ; John J. Mitchell^d ; Julian Raiman^e ; Maxime Beaudoin^a ; Bruno Maranda^a ; Joe T.R. Clarke^e

关键词：Mucopolysaccharidoses ; Tandem mass spectrometry ; Glycosaminoglycans ; Dermatan sulfate ; Heparan sulfate ; Keratan sulfate ; Chondroitin sulfate

刊名：Analytica Chimica Acta

出版年：2016

9.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

10.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

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