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ArticlesPeer ReviewedFull Text
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
Author / Creator:Chiong, Mary Anne D. ; Canson, Daffodil M. ; Abacan, Mary Ann R. ; Baluyot, Melissa Mae P. ; Cordero, Cynthia P. ; Silao, Catherine Lynn T.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.7-7, Article 7
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Glial degeneration with oxidative damage drives neuronal demise in MPSII disease
Author / Creator:Zalfa, Cristina ; Verpelli, Chiara ; D'Avanzo, Francesca ; Tomanin, Rosella ; Vicidomini, Cinzia ; Cajola, Laura ; Manara, Renzo ; Sala, Carlo ; Scarpa, Maurizio ; Vescovi, Angelo Luigi ; De Filippis, Lidia
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2016-08, Vol.7 (8), p.e2331-e2331
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X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
Author / Creator:Řeboun, M. ; Rybová, J. ; Dobrovolný, R. ; Včelák, J. ; Veselková, T. ; Štorkánová, G. ; Mušálková, D. ; Hřebíček, M. ; Ledvinová, J. ; Magner, M. ; Zeman, J. ; Pešková, K. ; Dvořáková, Lenka
Publisher:Czech Republic: Charles University in Prague, First Faculty of Medicine
Journal title:Folia biologica, 2016-01, Vol.62 (2), p.82-89
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Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II
Author / Creator:Yokoi, Kentaro ; Akiyama, Kazumasa ; Kaneshiro, Eiko ; Higuchi, Takashi ; Shimada, Yohta ; Kobayashi, Hiroshi ; Akiyama, Masaharu ; Otsu, Makoto ; Nakauchi, Hiromitsu ; Ohashi, Toya ; Ida, Hiroyuki
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.333-340
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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
Author / Creator:Guillén-Navarro, Encarna ; Domingo-Jiménez, María ; Alcalde-Martín, Carlos ; Cancho-Candela, Ramón ; Couce, María ; Galán-Gómez, Enrique ; Alonso-Luengo, Olga
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-06, Vol.8 (1), p.92-92
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Characterization of a novel mucopolysaccharidosis type Ⅱ mouse model and recombinant AAV2/8 vector-mediated gene therapy
Author / Creator:Jung, S.C., Ewha Womans University, Seoul, Republic of Korea ; Park, E.S., Ewha Womans University, Seoul, Republic of Korea ; Choi, E.N., Ewha Womans University, Seoul, Republic of Korea ; Kim, C.H., Samsung Biomedical Research Institute, Seoul, Republic of Korea ; Kim, S.J., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea ; Jin, D.K., Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
Publisher:Springer: Korean Society for Molecular and Cellular Biology
Journal title:Molecules and Cells, 2010, 30(1), , pp.13-18
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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
Author / Creator:Voznyi, Ya. V. ; Keulemans, J. L. M. ; Diggelen, O. P.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2001-11, Vol.24 (6), p.675-680
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Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients
Author / Creator:Clarke, Lorne Andrew ; Hemmelgarn, Harmony ; Colobong, Karen ; Thomas, Anita ; Stockler, Sylvia ; Casey, Robin ; Chan, Alicia ; Fernoff, Paul ; Mitchell, John
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.355-362
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Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2
Author / Creator:Zito, Ester ; Fraldi, Alessandro ; Pepe, Stefano ; Annunziata, Ida ; Kobinger, Gary ; Di Natale, Paola ; Ballabio, Andrea ; Cosma, Maria Pia
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:EMBO reports, 2005-07, Vol.6 (7), p.655-660
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MPS II in females: molecular basis of two different cases
Author / Creator:CUDRY, STÉPHANE ; TIGAUD, ISABELLE ; FROISSART, ROSELINE ; BONNET, VÉRONIQUE ; MAIRE, IRÈNE ; BOZON, DOMINIQUE
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2000-10, Vol.37 (10), p.e29-29
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Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome
Author / Creator:Hong, Youngtae ; Yu, Seung Shin ; Kim, Jong-Mook ; Lee, Karim ; Na, Young Soon ; Whitley, Chester B. ; Sugimoto, Yoshikazu ; Kim, Sunyoung
Publisher:Chichester, UK: John Wiley & Sons, Ltd
Journal title:The journal of gene medicine, 2003-01, Vol.5 (1), p.18-29
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Metabolic Correction and Cross-Correction of Mucopolysaccharidosis Type II (Hunter Syndrome) by Retroviral-Mediated Gene Transfer and Expression of Human Iduronate-2-Sulfatase
Author / Creator:Braun, Stephen E. ; Aronovich, Elena L. ; Anderson, Rose Ann ; Crotty, Paul L. ; McIvor, R. Scott ; Whitley, Chester B.
Publisher:Washington, DC: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1993-12, Vol.90 (24), p.11830-11834
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Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene
Author / Creator:Mossman, J ; Blunt, S ; Stephens, R ; Jones, E E ; Pembrey, M
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 1983-11, Vol.58 (11), p.911-915
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Replacement therapy in the mucopolysaccharidoses
Author / Creator:Dean, Michael F.
Publisher:BMJ Publishing Group Ltd and Association of Clinical Pathologists
Journal title:Journal of clinical pathology, 1978, Vol.s3-12 (1), p.120-127
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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

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Glial degeneration with oxidative damage drives neuronal demise in MPSII disease

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X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

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Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II

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Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

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Characterization of a novel mucopolysaccharidosis type Ⅱ mouse model and recombinant AAV2/8 vector-mediated gene therapy

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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

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Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients

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Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2

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MPS II in females: molecular basis of two different cases

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Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome

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Metabolic Correction and Cross-Correction of Mucopolysaccharidosis Type II (Hunter Syndrome) by Retroviral-Mediated Gene Transfer and Expression of Human Iduronate-2-Sulfatase

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Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene

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Replacement therapy in the mucopolysaccharidoses

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