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在“Elsevier电子期刊”中，命中：41条，耗时：0.1429363 秒

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.Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

作者：Gustavo Adolfo Giraldo^a ; ^{gustavo.giraldo@javeriana.edu.co" class="auth_mail" title="E-mail the corresponding author} ; Paola Ayala-Ramí ; rez^a ; Juan Carlos Prieto^a ; Reggie Garcí ; a-Robles^b ; Johanna Carolina Acosta^b

关键词：Mucopolysaccharidosis type VI ; ARSB deficiency ; Lysosomal storage disease ; Maroteaux&ndash ; Lamy syndrome ; Mutation

刊名：Meta Gene

出版年：2016

3.Cost-Effectiveness of the Quantification of Enzymatic Activity in Leukocytes in Comparison to Its Nonrealization for a Rare Disease in Latin America: The Case of Mucopolysaccharidosis Type II in Colombia

作者：Elizabeth Parody ; MSc ; PhD¹ ; ^{eparody@icesi.edu.co} ; Cesar A. Guevara ; MD ; MSc² ; André ; s Aguirre ; MSc³ ; Paula M. Tello ; MD⁴

关键词：cost-effectiveness ; Hunter syndrome ; iduronate-2-sulfatase ; mucopolysaccharidosis

刊名：Value in Health Regional Issues

出版年：2016

4.The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry

作者：Ryuichi Mashima^a ; ^{mashima-r@ncchd.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Eri Sakai^a ; Misa Tanaka^a ; Motomichi Kosuga^a ; ^b ; ^c ; ^{kosuga-mo@ncchd.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Torayuki Okuyama^a

关键词：Mucopolysaccharidosis ; Glycosaminoglycans ; LC-MS/MS ; Hunter syndrome

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

5.The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences

作者：Stefano Bruni^a ; ^{stefano.bruni@genzyme.com" class="auth_mail" title="E-mail the corresponding author} ; Christine Lavery^b ; ^{C.Lavery@mpssociety.org.uk" class="auth_mail" title="E-mail the corresponding author} ; Alexander Broomfield^c ; ^{Alexander.Broomfield@cmft.nhs.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：Card ; cardiologist ; ENT ; ear nose and throat ; ERT ; enzyme replacement therapy ; EU ; Europe ; GAG ; glycosaminoglycan ; Gen Pract ; general practitioner ; Gen/Met Dis ; geneticist/metabolic disease specialist ; HSCT ; hematopoietic stem cell transplant ; IDUA ; α-l-iduronidase ; LA ; Latin America ; MPS I ; mucopolysaccharidosis Type I ; Neuro ; neurologist ; Ophth ; ophthalmologist ; Ortho ; orthopedist ; Ped or P ; pediatrician ; Pulm ; pulmonologist ; Rheum or R ; rheumatologist ; US ; United States

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

6.Les mucopolysaccharidoses : pathologie métabolique de gestion lourde

作者：H. El Jadi ; ^{dr.eljadi@gmail.com" class="auth_mail" title="E-mail the corresponding author} (Dr) ; A. Moumen (Dr) ; A.A. Guerboub (Dr) ; S. Sellay (Dr) ; A. Labied (Dr) ; M. Elmokhtari (Dr) ; A. Gaouzi (Pr)

刊名：Annales d'Endocrinologie

出版年：2016

7.Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I

关键词：OSAS ; obstructive sleep apnea syndrome ; MPS I ; mucopolysaccharidosis I ; HSCT ; hematopoietic stem cell transplantation ; PSG ; polysomnography ; AHI ; apnea&ndash ; hypopnea index ; GAG ; glycosaminoglycan ; IDUA ; a-L-iduronidase ; MPS I-H ; Hurler syndrome ; MPS I-S ; Scheie syndrome ; SDB ; sleep disordered breathing ; ERT ; enzyme replacement therapy ; DQ ; developmental quotient ; IQ ; intellectual quotient ; WPPSI-R ; Wechsler Preschool and Primary Scale of Intelligence ; WISC III ; Wechsler Intelligence Scale for C

刊名：Molecular Genetics and Metabolism

出版年：2015

8.Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

关键词：AMO ; antisense morpholino oligonucleotide ; AO ; antisense oligonucleotide ; C ; healthy control ; ESE ; exonic splicing enhancer ; ESS ; exonic splicing silencer ; hnRNP ; heterogeneous nuclear ribonucleoprotein ; ISE ; intronic splicing enhancer ; ISS ; intronic splicing silencer ; LNA ; locked nucleic acid ; LSD ; lysosomal storage disorder ; MPS II ; mucopolysaccharidosis type II ; NC ; negative control ; P ; patient ; siRNA ; small interfering RNA ; SR ; arginine&ndash ; serine ; V ; vector sequence ; WT ; wild-type

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2015

9.Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

作者：A.C. Brusius-Facchin ; I.V.D. Schwartz ; C. Zimmer ; M.G. Ribeiro ; A.X. Acosta ; D. Horovitz ; I.L. Monlle贸 ; M.I.B. Fontes ; A. Fett-Conte ; R.P. Oliveira Sobrinho ; A.R. Duarte ; R. Boy ; P. Mabe ; M. Ascurra ; M. de Michelena ; K.L. Tylee ; G.T.N. Besley ; M.C.V. Garreton ; R. Giugliani ; S. Leistner-Segal

关键词：Mucopolysaccharidosis type II ; Glycosaminoglycans ; Hunter syndrome ; Iduronate-2-sulfatase ; Genotype&ndash ; phenotype correlation

刊名：Molecular Genetics and Metabolism

出版年：February, 2014

10.Up to five years experience with 11 mucopolysaccharidosis type VI patients

作者：Marion M.M.G. Brands^a ; ^b ; ^c ; Esmee Oussoren^a ; ^b ; ^c ; George J.G. Ruijter^a ; ^b ; ^c ; Audrey A.M. Vollebregt^a ; ^b ; ^c ; Hannerieke M.P. van den Hout^a ; ^b ; ^c ; Koen F.M. Joosten^d ; Wim C.J. Hop^e ; Iris Plug^a ; ^b ; ^c ; Ans T. van der Ploeg^a ; ^b ; ^c ; ^{a.vanderploeg@erasmusmc.nl}

关键词：Mucopolysaccharidosis type VI ; Maroteaux&ndash ; Lamy syndrome ; Enzyme-replacement therapy ; Lysosomal storage disorders

刊名：Molecular Genetics and Metabolism

出版年：2013

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